SWISSVAR
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1 protein found in SwissVar (5 variants)

with gene/protein name O43379

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
O43379 WDR62_HUMAN microcephaly 2, primary, autosomal recessive, with or without cortical malformations p.Val65Met
p.Trp224Ser
p.Arg438His
p.Asp511Asn
p.Glu526Lys