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Achromatopsia
Additional findings_Adult
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Alagille syndrome
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Dystonia_Superpanel
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Hereditary Spastic Paraplegia Superpanel
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IBMDx study
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NCGC
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Prepair 1000+
Prepair 500+
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Retinitis Pigmentosa Superpanel
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Severe Combined Immunodeficiency (absent T present B cells)
Severe early-onset obesity
Short Long Bones with Advanced Carpal Bone Age
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Sick sinus syndrome
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Stickler Syndrome
Stroke
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TCGA_PANCAN_2018
Transplant Co-Morbidity Superpanel
Tremors_Superpanel
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
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Usher Syndrome
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Vascular Malformations SuperPanel
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Vitreoretinopathy
Wilms Tumour Predisposition
Version
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0.2
Gene or Genomic Entity Name
CDC73
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07 Jan 2020
NCGC v0.0
CDC73
Lavinia Gordon gene: CDC73 was added
gene: CDC73 was added to NCGC. Sources: NCGC
Mode of inheritance for gene: CDC73 was set to Other
Phenotypes for gene: CDC73 were set to Hyperparathyroidism 2