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{
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{
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"Expert Review"
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{
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{
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{
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"UKGTN",
"Radboud University Medical Center, Nijmegen",
"Illumina TruGenome Clinical Sequencing Services"
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"Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia"
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},
{
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"Expert Review"
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{
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"Cayman ataxia",
"caytaxin"
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},
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"14556008",
"23226316",
"26343454"
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"UKGTN",
"Illumina TruGenome Clinical Sequencing Services",
"Radboud University Medical Center, Nijmegen"
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},
{
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"TELO1"
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},
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"Radboud University Medical Center, Nijmegen",
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{
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{
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{
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"EA2",
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{
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"15331424"
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{
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},
{
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{
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},
{
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"176270",
"Prader-Willi syndrome",
"105830"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"chromosome": "15",
"grch37_coordinates": null,
"grch38_coordinates": [
23465365,
28134728
],
"tags": []
}
]
}