Varaico: Literature-Extracted Genetic Variants

Gene:PAX3
Variant:p.R74G
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PAX3

NM_181458.4:p.R74G

Associated Papers

Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea.

Jang MA et al.

Annals of Laboratory Medicine, 2015

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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."