Varaico: Literature-Extracted Genetic Variants

Gene:PAX7
Variant:p.V29V
Back to variants list

PAX7

NM_001135254.2:p.V29V

Associated Papers

Biallelic PAX7 variants cause a novel Satellite Cell-opathy with progressive muscle involvement resembling facioscapulohumeral muscular dystrophy.

Ganassi M et al.

Cell Death & Disease, 2026

41611663 (PubMed )
Supplement: 41419_2025_8358_MOESM7_ESM.xlsx › Sheet1

A Synonymous Exonic Splice Silencer Variant in IRF6 as a Novel and Cryptic Cause of Non-Syndromic Cleft Lip and Palate.

Sylvester B et al.

Genes, 2020

PAX7 nucleotide variants and the risk of non-syndromic orofacial clefts in the Polish population.

Gaczkowska A et al.

Oral Diseases, 2019

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."