Varaico: Literature-Extracted Genetic Variants

Gene:VPS50
Variant:p.S476S
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VPS50

NM_017667.4:p.S476S

Associated Papers

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Kosmicki JA et al.

Nature Genetics, 2017

28191890 (PubMed )
Supplement: NIHMS845776-supplement-5.xlsx › Congenital_Heart_Disease
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