Varaico: Literature-Extracted Genetic Variants

Gene:PAX3
Variant:p.Y243S
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PAX3

NM_181458.4:p.Y243S

Associated Papers

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

Review and update of mutations causing Waardenburg syndrome.

Pingault V et al.

Human Mutation, 2010

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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."