Varaico: Literature-Extracted Genetic Variants

Gene:PAX3
Variant:p.W266C
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PAX3

NM_181458.4:p.W266C

Associated Papers

The Diverse Genetic Landscape of Hearing Impairment in South African Families.

Bharadwaj T et al.

Clinical Genetics, 2025

Loading of PAX3 to Mitotic Chromosomes Is Mediated by Arginine Methylation and Associated with Waardenburg Syndrome.

Wu TF et al.

The Journal of Biological Chemistry, 2015

Characterization of a novel missense mutation on murine Pax3 through ENU mutagenesis.

Xiao Y et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2011

A cascade of genes related to Waardenburg syndrome.

Tachibana M

The Journal of Investigative Dermatology. Symposium Proceedings, 1999

Epistatic relationship between Waardenburg syndrome genes MITF and PAX3.

Watanabe A et al.

Nature Genetics, 1998

Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.

Carey ML et al.

Journal of Medical Genetics, 1998

Waardenburg syndrome.

Read AP et al.

Journal of Medical Genetics, 1997

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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."