Varaico: Literature-Extracted Genetic Variants

Gene:TP63
Variant:p.G115W
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TP63

NM_003722.5:p.G115W

Associated Papers

Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect.

Mathorne SW et al.

Clinical Genetics, 2020

Nonsyndromic Split-Hand/Foot Malformation: Recent Classification.

Umair M et al.

Molecular Syndromology, 2020

A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia.

Jin JY et al.

The Journal of Gene Medicine, 2019

TP63-truncating variants cause isolated premature ovarian insufficiency.

Tucker EJ et al.

Human Mutation, 2019

Itch/AIP4 associates with and promotes p63 protein degradation.

Rossi M et al.

Cell Cycle (georgetown, Tex.), 2006

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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."