Varaico: Literature-Extracted Genetic Variants

Gene:TP63
Variant:p.R319L
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TP63

NM_003722.5:p.R319L

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

A novel de novo TP63 mutation in whole-exome sequencing of a Syrian family with Oral cleft and ectrodactyly.

Simpson CL et al.

Molecular Genetics & Genomic Medicine, 2023

Expanding the genetic spectrum of tooth agenesis using whole-exome sequencing.

Yu K et al.

Clinical Genetics, 2022

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

Copy-number variants and candidate gene mutations in isolated split hand/foot malformation.

Carter TC et al.

Journal of Human Genetics, 2017

[BMP2/BMP4 genetic evaluation in 40 patients with tooth agenesis].

Zou C et al.

Shanghai Kou Qiang Yi Xue = Shanghai Journal of Stomatology, 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."