Varaico: Literature-Extracted Genetic Variants

Gene:PAX3
Variant:p.E235*
Back to variants list

PAX3

NM_181458.4:p.E235*

Associated Papers

Review and update of mutations causing Waardenburg syndrome.

Pingault V et al.

Human Mutation, 2010

Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.

DeStefano AL et al.

Human Genetics, 1998

Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature.

Baldwin CT et al.

American Journal of Medical Genetics, 1995

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."