Varaico: Literature-Extracted Genetic Variants

Gene:PAX3
Variant:p.H64Q
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PAX3

NM_181458.4:p.H64Q

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

Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.

Lee CY et al.

Molecular Genetics & Genomic Medicine, 2022

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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."