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{
"tags": [],
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{
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{
"tags": [
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"Yorkshire and North East GLH",
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},
{
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{
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{
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},
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"phenotypes": [
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"entity_name": "YY1AP1",
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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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"hgnc_release": "2017-11-03T00:00:00",
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},
"GRch38": {
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},
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},
{
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"NHS GMS",
"Expert Review Red",
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}
},
"hgnc_date_symbol_changed": "1994-07-15"
},
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},
{
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"Expert Review Red",
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}
},
"GRch38": {
"90": {
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"ensembl_id": "ENSG00000105647"
}
}
},
"hgnc_date_symbol_changed": "1992-12-08"
},
"penetrance": "Complete",
"phenotypes": [
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"entity_name": "PIK3R2",
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"mode_of_pathogenicity": ""
},
{
"tags": [],
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"NHS GMS",
"Expert Review Red",
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},
"GRch38": {
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}
},
"hgnc_date_symbol_changed": "2005-06-02"
},
"penetrance": "Complete",
"phenotypes": [
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},
{
"tags": [],
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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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{
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},
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},
{
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},
{
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"Vein of Galen malformation",
"Cerebral arteriovenous malformations",
"Moyamoya disease",
"R336"
],
"signed_off": "2020-03-02"
}