Varaico: Literature-Extracted Genetic Variants

Gene:WDPCP
Variant:p.D54N
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WDPCP

NM_015910.7:p.D54N

Associated Papers

Identification of conserved residues essential for the ciliogenic functions of WDPCP.

Choi YJ et al.

Disease Models & Mechanisms, 2025

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.

Bruel AL et al.

Journal of Medical Genetics, 2017

Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity—ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas.

Saari J et al.

American Journal of Medical Genetics. Part A, 2015

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