Varaico: Literature-Extracted Genetic Variants

Gene:TP63
Variant:p.H247R
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TP63

NM_003722.5:p.H247R

Associated Papers

Ectrodactyly, Cleft Lip/Palate, and Urinary Anomalies With a Tumor Protein p63 (TP63) Mutation: A Case Report and Literature Review.

Mohamed RH et al.

Cureus, 2025

Ectrodactyly-ectodermal dysplasia-clefting syndrome. Prenatal prospective ultrasound diagnosis.

Orlandi G et al.

Journal of Clinical Ultrasound : Jcu, 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

TP63-mutation as a cause of prenatal lethal multicystic dysplastic kidneys.

Friedmann I et al.

Molecular Genetics & Genomic Medicine, 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

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut

TP63-truncating variants cause isolated premature ovarian insufficiency.

Tucker EJ et al.

Human Mutation, 2019

Genetic analysis of a congenital split‑hand/split‑foot malformation 4 pedigree.

Yang X et al.

Molecular Medicine Reports, 2018

Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.

Polla DL et al.

Plos One, 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."