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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:WDR62

Variant:p.V1083A

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WDR62

NM_001083961.2:p.V1083A

hg38:chr19:36102764 T>C

Associated Papers

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.

Bilgüvar K et al.

Nature, 2010

20729831 (PubMed )

Supplement: NIHMS218517-supplement-1.doc

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