Varaico: Literature-Extracted Genetic Variants

Gene:PAX3
Variant:p.L234P
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PAX3

NM_181458.4:p.L234P

Associated Papers

A novel frameshift variant of PAX3 in a Chinese Yugur family with Waardenburg syndrome type 1.

Zhan L et al.

Frontiers in 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

Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.

Chen H et al.

Biochemical and Biophysical Research Communications, 2010

Review and update of mutations causing Waardenburg syndrome.

Pingault V et al.

Human Mutation, 2010

A novel mutation of PAX3 in a Chinese family with Waardenburg syndrome.

Qin W et al.

Molecular Vision, 2006

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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."