Varaico: Literature-Extracted Genetic Variants

Gene:TP63
Variant:p.G173V
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TP63

NM_003722.5:p.G173V

Associated Papers

Case report: ADULT syndrome: a rare case of congenital lacrimal duct abnormality.

Zhou J et al.

Frontiers in Genetics, 2023

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype

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

EEC- and ADULT-associated TP63 mutations exhibit functional heterogeneity toward P63 responsive sequences.

Monti P et al.

Human Mutation, 2013

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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."