Varaico: Literature-Extracted Genetic Variants

Gene:WDR35
Variant:p.S634P
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WDR35

NM_020779.4:p.S634P

Associated Papers

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.

Caparrós-Martín JA et al.

Human Molecular Genetics, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."