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Article

De Novo Missense Variant in TP63 Gene: Insights on Clinical and Molecular Investigations.

The journal of gene medicine - 1 Nov 2025

Chen Jilong, Xi Xufeng, Xu Xiaoman, Lin Yao

Abstract excerpt

OBJECTIVE: This study aims to investigate the phenotypes, mutation types, and loci associated with TP63-related syndrome by focusing on an affected proband. METHODS: Employing a proband collection strategy, we identified a family presenting with TP63-related syndrome and performed thorough clinical evaluations on the proband and family members. We subsequently documented the phenotype, mutation type, and locus of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41264930
DOI: 10.1002/jgm.70055
PMCID: PMC12634139

Genes

TP63

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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