Varaico: Literature-Extracted Genetic Variants

Gene:WDPCP
Variant:p.Q25_D26Splc
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WDPCP

NM_015910.7:p.Q25_D26Splc

Associated Papers

The role of WD40 repeat-containing proteins in endocrine (dys)function.

Hu Y et al.

Journal of Molecular Endocrinology, 2023

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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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."