Varaico: Literature-Extracted Genetic Variants

Gene:TP63
Variant:p.R352G
Back to variants list

TP63

NM_003722.5:p.R352G

Associated Papers

Role of MTHFR, IRF6, PAX7 and TP63 SNPs in susceptibility to non-syndromic orofacial cleft, a candidate gene study in a Portuguese population.

Mendes J et al.

Orthodontics & Craniofacial Research, 2024

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

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

Deletions and loss-of-function variants in TP63 associated with orofacial clefting.

Khandelwal KD et al.

European Journal of Human Genetics : Ejhg, 2019

TP63-truncating variants cause isolated premature ovarian insufficiency.

Tucker EJ et al.

Human Mutation, 2019

Evaluating rare coding variants as contributing causes to non-syndromic cleft lip and palate.

Leslie EJ et al.

Clinical Genetics, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."