{
  "url": "https://dantelabs.com/et/genes/col13a1",
  "gene": {
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        {
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          "biotype": "protein_coding",
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        {
          "symbol": "MACROH2A2",
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        {
          "symbol": "PPA1",
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        {
          "symbol": "NPFFR1",
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          "biotype": "protein_coding",
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        {
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          "slug": "lrrc20"
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      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-myasthenic-syndrome",
        "name": "Kongenitaalne müasteeniline sündroom",
        "diseases": [
          {
            "mondoId": "MONDO:0018940",
            "name": "Kaasasündinud müasteenilised sündroomid (kõik tüübid)",
            "genes": 27,
            "inheritance": null,
            "description": "Üldmõiste, mis hõlmab kõiki kaasasündinud müasteenilisi sündroome, sealhulgas levinumaid CHRNE, RAPSN, DOK7 ja MUSK vorme.",
            "management": "Paljud vormid reageerivad konkreetsetele ravimitele, nagu püridostigmiin, salbutamool või efedriin, ning sobiv valik sõltub asjaomasest geenist.",
            "evidence": {
              "gencc": [
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                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
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            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/et/conditions/congenital-myasthenic-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-enzyme-concentration-or-activity",
        "name": "Abnormal circulating enzyme concentration or activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-enzyme-concentration-or-activity"
      },
      {
        "slug": "abnormal-facial-shape",
        "name": "Abnormal facial shape",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormal-facial-shape"
      },
      {
        "slug": "abnormal-synaptic-transmission-at-the-neuromuscular-junction",
        "name": "Abnormal synaptic transmission at the neuromuscular junction",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-synaptic-transmission-at-the-neuromuscular-junction"
      },
      {
        "slug": "abnormality-of-the-knee",
        "name": "Abnormality of the knee",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-knee"
      },
      {
        "slug": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "gastroesophageal-reflux",
        "name": "Acid reflux",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gastroesophageal-reflux"
      },
      {
        "slug": "axial-muscle-weakness",
        "name": "Axial muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/axial-muscle-weakness"
      },
      {
        "slug": "barrel-shaped-chest",
        "name": "Barrel-shaped chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/barrel-shaped-chest"
      },
      {
        "slug": "facial-palsy",
        "name": "Bell's palsy",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/facial-palsy"
      },
      {
        "slug": "mandibular-prognathia",
        "name": "Big lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/mandibular-prognathia"
      },
      {
        "slug": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "bulbar-palsy",
        "name": "Bulbar palsy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bulbar-palsy"
      },
      {
        "slug": "impaired-mastication",
        "name": "Chewing difficulties",
        "systems": [
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        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/impaired-mastication"
      },
      {
        "slug": "talipes-equinovarus",
        "name": "Club feet",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/talipes-equinovarus"
      },
      {
        "slug": "exercise-intolerance",
        "name": "Decreased ability to exercise",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/exercise-intolerance"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "decreased-size-of-nerve-terminals",
        "name": "Decreased size of nerve terminals",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-size-of-nerve-terminals"
      },
      {
        "slug": "distal-joint-hypermobility",
        "name": "Distal joint hypermobility",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-joint-hypermobility"
      },
      {
        "slug": "bilateral-ptosis",
        "name": "Drooping of both upper eyelids",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bilateral-ptosis"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "emg-decremental-response-of-compound-muscle-action-potential-to-repetitive-nerve-stimulation",
        "name": "EMG: decremental response of compound muscle action potential to repetitive nerve stimulation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/emg-decremental-response-of-compound-muscle-action-potential-to-repetitive-nerve-stimulation"
      },
      {
        "slug": "exertional-dyspnea",
        "name": "Exertional breathlessness",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/exertional-dyspnea"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "frequent-falls",
        "name": "Frequent falls",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/frequent-falls"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "generalized-muscle-weakness",
        "name": "Generalized muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/generalized-muscle-weakness"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hand-muscle-weakness",
        "name": "Hand muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hand-muscle-weakness"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "pulmonary-arterial-hypertension",
        "name": "Increased blood pressure in blood vessels of lungs",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pulmonary-arterial-hypertension"
      },
      {
        "slug": "increased-jitter-at-single-fiber-emg",
        "name": "Increased jitter at single fiber EMG",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-jitter-at-single-fiber-emg"
      },
      {
        "slug": "increased-variability-in-muscle-fiber-diameter",
        "name": "Increased variability in muscle fiber diameter",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-variability-in-muscle-fiber-diameter"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "limited-extraocular-movements",
        "name": "Limited extraocular movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/limited-extraocular-movements"
      },
      {
        "slug": "limited-wrist-extension",
        "name": "Limited wrist extension",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/limited-wrist-extension"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "neck-muscle-weakness",
        "name": "Neck muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neck-muscle-weakness"
      },
      {
        "slug": "neonatal-respiratory-distress",
        "name": "Neonatal respiratory distress",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neonatal-respiratory-distress"
      },
      {
        "slug": "sleep-apnea",
        "name": "Pauses in breathing while sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sleep-apnea"
      },
      {
        "slug": "pectus-carinatum",
        "name": "Pigeon chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pectus-carinatum"
      },
      {
        "slug": "poor-head-control",
        "name": "Poor head control",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/poor-head-control"
      },
      {
        "slug": "poor-suck",
        "name": "Poor suck",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/poor-suck"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "prolonged-miniature-endplate-currents",
        "name": "Prolonged miniature endplate currents",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prolonged-miniature-endplate-currents"
      },
      {
        "slug": "proximal-muscle-weakness",
        "name": "Proximal neurogenic muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/proximal-muscle-weakness"
      },
      {
        "slug": "retrognathia",
        "name": "Receding chin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/retrognathia"
      },
      {
        "slug": "recurrent-lower-respiratory-tract-infections",
        "name": "Recurrent chest infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-lower-respiratory-tract-infections"
      },
      {
        "slug": "spinal-rigidity",
        "name": "Reduced spine movement",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spinal-rigidity"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "right-ventricular-hypertrophy",
        "name": "Right ventricular hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/right-ventricular-hypertrophy"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "hypoventilation",
        "name": "Slow breathing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoventilation"
      },
      {
        "slug": "slow-pupillary-light-response",
        "name": "Slow pupillary light response",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/slow-pupillary-light-response"
      },
      {
        "slug": "easy-fatigability",
        "name": "Tired easily",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/easy-fatigability"
      },
      {
        "slug": "triangular-mouth",
        "name": "Triangular mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/triangular-mouth"
      },
      {
        "slug": "type-1-muscle-fiber-predominance",
        "name": "Type 1 muscle fiber predominance",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/type-1-muscle-fiber-predominance"
      },
      {
        "slug": "type-2-muscle-fiber-atrophy",
        "name": "Type 2 muscle fiber atrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/type-2-muscle-fiber-atrophy"
      },
      {
        "slug": "unfavorable-response-of-muscle-weakness-to-acetylcholine-esterase-inhibitors",
        "name": "Unfavorable response of muscle weakness to acetylcholine esterase inhibitors",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/unfavorable-response-of-muscle-weakness-to-acetylcholine-esterase-inhibitors"
      },
      {
        "slug": "waddling-gait",
        "name": "Waddling gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/waddling-gait"
      },
      {
        "slug": "weak-cry",
        "name": "Weak cry",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/weak-cry"
      },
      {
        "slug": "ophthalmoparesis",
        "name": "Weakness of muscles controlling eye movement",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ophthalmoparesis"
      },
      {
        "slug": "distal-muscle-weakness",
        "name": "Weakness of outermost muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-muscle-weakness"
      },
      {
        "slug": "scapular-winging",
        "name": "Winged shoulder blade",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scapular-winging"
      }
    ],
    "related": [
      {
        "slug": "agrn",
        "symbol": "AGRN",
        "name": "agrin",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/agrn"
      },
      {
        "slug": "alg14",
        "symbol": "ALG14",
        "name": "ALG14 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/alg14"
      },
      {
        "slug": "alg2",
        "symbol": "ALG2",
        "name": "ALG2 alpha-1,3/1,6-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/alg2"
      },
      {
        "slug": "chat",
        "symbol": "CHAT",
        "name": "choline O-acetyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/chat"
      },
      {
        "slug": "chrna1",
        "symbol": "CHRNA1",
        "name": "cholinergic receptor nicotinic alpha 1 subunit",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/chrna1"
      },
      {
        "slug": "chrnb1",
        "symbol": "CHRNB1",
        "name": "cholinergic receptor nicotinic beta 1 subunit",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/chrnb1"
      },
      {
        "slug": "chrnd",
        "symbol": "CHRND",
        "name": "cholinergic receptor nicotinic delta subunit",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/chrnd"
      },
      {
        "slug": "chrne",
        "symbol": "CHRNE",
        "name": "cholinergic receptor nicotinic epsilon subunit",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/chrne"
      },
      {
        "slug": "colq",
        "symbol": "COLQ",
        "name": "collagen like tail subunit of asymmetric acetylcholinesterase",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/colq"
      },
      {
        "slug": "dok7",
        "symbol": "DOK7",
        "name": "docking protein 7",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/dok7"
      },
      {
        "slug": "dpagt1",
        "symbol": "DPAGT1",
        "name": "dolichyl-phosphate N-acetylglucosaminephosphotransferase 1",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/dpagt1"
      },
      {
        "slug": "gfpt1",
        "symbol": "GFPT1",
        "name": "glutamine--fructose-6-phosphate transaminase 1",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/gfpt1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}