Varaico: Literature-Extracted Genetic Variants

Gene:TP63
Variant:p.K200E
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TP63

NM_003722.5:p.K200E

Associated Papers

A Novel TP63 Missense Mutation in the Sumoylation Motif Causes Isolated Split-Hand/Foot Malformation 4: A Pedigree Report and Literature Review.

Yang W et al.

Molecular Genetics & Genomic Medicine, 2025

Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese family.

Peng Y et al.

Molecular Genetics & Genomic Medicine, 2021

TP63-truncating variants cause isolated premature ovarian insufficiency.

Tucker EJ et al.

Human Mutation, 2019

Multiplex ligation-dependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalities.

Xu Z et al.

Molecular Cytogenetics, 2014

A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation.

Simonazzi G et al.

Prenatal Diagnosis, 2012

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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."