Varaico: Literature-Extracted Genetic Variants

Gene:TP63
Variant:p.S285N
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TP63

NM_003722.5:p.S285N

Associated Papers

Unraveling the cellular characteristics of cardiomyopathy with rare variant-driven gene signatures using multi-omics analysis.

Jeong HE et al.

Scientific Reports, 2025

41469780 (PubMed )
Supplement: 41598_2025_33901_MOESM8_ESM.xlsx › TableS2

A TAp63alpha truncating variant associated with primary ovarian insufficiency lowers the cellular apoptotic rate.

Moleri S et al.

Journal of Ovarian Research, 2025

Advances in the genetic etiology of female infertility.

Gu R et al.

Journal of Assisted Reproduction and Genetics, 2024

Prevalence and spectrum of cancer predisposition germline mutations in young patients with the common late-onset cancers.

Hao S et al.

Cancer Medicine, 2023

37610374 (PubMed )
Supplement: CAM4-12-18394-s002.xlsx › Germline_variants

TP63 gain-of-function mutations cause premature ovarian insufficiency by inducing oocyte apoptosis.

Huang C et al.

The Journal of Clinical Investigation, 2023

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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."