Varaico: Literature-Extracted Genetic Variants

Gene:TP63
Variant:p.G315W
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TP63

NM_003722.5:p.G315W

Associated Papers

A Novel TP63 Missense Mutation in the Sumoylation Motif Causes Isolated Split-Hand/Foot Malformation 4: A Pedigree Report and Literature Review.

Yang W et al.

Molecular Genetics & Genomic Medicine, 2025

Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese family.

Peng Y et al.

Molecular Genetics & Genomic Medicine, 2021

Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2).

Yamoto K et al.

European Journal of Human Genetics : Ejhg, 2019

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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."