SWISSVAR
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1 protein found in SwissVar (9 variants)

with gene/protein name Q96EX3

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)
Q96EX3 WDR34_HUMAN short-rib thoracic dysplasia 11 with or without polydactyly p.Cys148Phe
p.Ala341Val
p.Thr354Met
p.Pro390Leu
p.Gly393Ser
p.Ser410Ile
p.Lys436Arg
p.Arg447Trp
p.Arg447Gln