Varaico: Literature-Extracted Genetic Variants

Gene:WDPCP
Variant:p.R55K
Back to variants list

WDPCP

NM_015910.7:p.R55K

Associated Papers

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

Choi YJ et al.

Disease Models & Mechanisms, 2025

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."