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Achromatopsia
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Prepair 1000+
Prepair 500+
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Retinitis Pigmentosa Superpanel
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Severe early-onset obesity
Short Long Bones with Advanced Carpal Bone Age
Short QT syndrome
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
Sick sinus syndrome
Skeletal dysplasia
Skeletal Dysplasia_Fetal
Skeletal Muscle Channelopathies
Speech apraxia
Spondylocostal Dysostosis
Stickler Syndrome
Stroke
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TCGA_PANCAN_2018
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Vascular Malformations SuperPanel
Vasculitis
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Wilms Tumour Predisposition
Version
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0.285
Gene or Genomic Entity Name
CDH23
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17 Dec 2019
Skeletal dysplasia v0.0
CDH23
Zornitza Stark gene: CDH23 was added
gene: CDH23 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: CDH23 was set to