Varaico: Literature-Extracted Genetic Variants

Gene:PAX3
Variant:p.Q313*
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PAX3

NM_181458.4:p.Q313*

Associated Papers

Dominant blue eyes in Maine Coon cats: New PAX3 variant and updated phenotypic data.

Abitbol M et al.

Animal Genetics, 2025

PAX3 haploinsufficiency in Maine Coon cats with dominant blue eyes and hearing loss resembling the human Waardenburg syndrome.

Rudd Garces G et al.

G3 (bethesda, Md.), 2024

Different Founding Effects Underlie Dominant Blue Eyes (DBE) in the Domestic Cat.

Abitbol M et al.

Animals : an Open Access Journal From Mdpi, 2024

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

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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."