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        "name": "Distonie, miotonie, discinezie paroxistică",
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            "description": "Termen general care acoperă distoniile ereditare, inclusiv distonia generalizată cu debut precoce DYT-TOR1A, DYT-THAP1, mioclonia-distonia (SGCE) și distonia asociată cu KMT2B.",
            "management": null,
            "evidence": {
              "gencc": [
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        "url": "https://dantelabs.com/ro/conditions/dystonia-myotonia-paroxysmal-dyskinesia"
      }
    ],
    "pharmacogenomics": [],
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    "related": [
      {
        "slug": "actb",
        "symbol": "ACTB",
        "name": "actin beta",
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        "url": "https://dantelabs.com/ro/genes/actb"
      },
      {
        "slug": "ano3",
        "symbol": "ANO3",
        "name": "anoctamin 3",
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        "url": "https://dantelabs.com/ro/genes/ano3"
      },
      {
        "slug": "atp1a3",
        "symbol": "ATP1A3",
        "name": "ATPase Na+/K+ transporting subunit alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/atp1a3"
      },
      {
        "slug": "bcap31",
        "symbol": "BCAP31",
        "name": "B cell receptor associated protein 31",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/bcap31"
      },
      {
        "slug": "col6a3",
        "symbol": "COL6A3",
        "name": "collagen type VI alpha 3 chain",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/col6a3"
      },
      {
        "slug": "dcaf17",
        "symbol": "DCAF17",
        "name": "DDB1 and CUL4 associated factor 17",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/dcaf17"
      },
      {
        "slug": "gch1",
        "symbol": "GCH1",
        "name": "GTP cyclohydrolase 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/gch1"
      },
      {
        "slug": "gnal",
        "symbol": "GNAL",
        "name": "G protein subunit alpha L",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/gnal"
      },
      {
        "slug": "hpca",
        "symbol": "HPCA",
        "name": "hippocalcin",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/hpca"
      },
      {
        "slug": "kcnj10",
        "symbol": "KCNJ10",
        "name": "potassium inwardly rectifying channel subfamily J member 10",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/kcnj10"
      },
      {
        "slug": "kctd17",
        "symbol": "KCTD17",
        "name": "potassium channel tetramerization domain containing 17",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/kctd17"
      },
      {
        "slug": "kmt2b",
        "symbol": "KMT2B",
        "name": "lysine methyltransferase 2B",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/kmt2b"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}