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{
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},
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{
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},
"hgnc_date_symbol_changed": "1986-01-01"
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"SFN",
"Small fibre neuropathy",
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},
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"Neuropathy, hereditary sensory and autonomic, type VII, 615548"
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"25316021",
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{
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"HYPP",
"SkM1"
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"Hypokalemic periodic paralysis, type 2, 613",
"Potassium-Aggravated Myotonia",
"Hyperkalemic periodic paralysis, type 2, 170500",
"Myasthenic syndrome, acetazolamide-responsive, 614198",
"Hyperkalemic Periodic Paralysis",
"Episodic weakness",
"Myotonia",
"Hypokalemic Periodic Paralysis"
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"transcript": null,
"entity_name": "SCN4A",
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"15534250"
],
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},
{
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}
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"Small fiber neuropathy, AD,133020",
"Febrile seizures, familial, 3B, 613863",
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"16392115",
"17679678",
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"16216943",
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"24817410",
"15958509",
"28235406",
"23596073",
"17167479",
"14985375"
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},
{
"tags": [
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},
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}
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},
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"phenotypes": [
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"{Obsessive-compulsive disorder}"
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"transcript": null,
"entity_name": "SLC6A4",
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"16642437",
"15642926"
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"mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments"
},
{
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"London North GLH",
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