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},
"penetrance": null,
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"transcript": null,
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},
{
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},
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}
},
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},
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],
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"mode_of_pathogenicity": ""
},
{
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"cnv",
"currently-ngs-unreportable"
],
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"",
"UKGTN"
],
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}
},
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},
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},
{
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"",
"Emory Genetics Laboratory",
"Radboud University Medical Center, Nijmegen",
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},
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}
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"entity_name": "EMD",
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},
{
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"gene_data": {
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"Bos1"
],
"biotype": "protein_coding",
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},
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}
},
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},
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],
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},
{
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"Emory Genetics Laboratory",
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],
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},
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},
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"Oculopharyngeal muscular dystrophy"
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},
{
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],
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"omim_gene": [
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],
"alias_name": [
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"hgnc_symbol": "RYR1",
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"82": {
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},
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}
},
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"Minicore myopathy with external ophthalmoplegia",
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},
{
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"omim_gene": [
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},
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},
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},
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},
{
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"GRch37": {
"82": {
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},
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}
},
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},
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},
{
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},
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},
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}
],
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{
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{
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