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{
"id": 312,
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{
"tags": [],
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{
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{
"tags": [],
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"penetrance": "Complete",
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},
{
"tags": [],
"evidence": [
"Expert Review Green",
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"UKGTN",
"Illumina TruGenome Clinical Sequencing Services",
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"GRch37": {
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"penetrance": "Complete",
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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"gene_data": {
"alias": [
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"GRch37": {
"82": {
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},
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"penetrance": "Complete",
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},
{
"tags": [],
"evidence": [
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"gene_data": {
"alias": [],
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"gene_symbol": "SOX3",
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"GRch37": {
"82": {
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},
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"90": {
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}
},
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"penetrance": "Complete",
"phenotypes": [
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"confidence_level": "1",
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
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},
{
"tags": [],
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"Expert Review Red",
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"gene_data": {
"alias": [
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},
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}
],
"stats": {
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},
"types": [
{
"name": "Rare Disease 100K",
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"description": "Rare Disease 100K"
},
{
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{
"name": "GMS Rare Disease",
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},
{
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}