Varaico: Literature-Extracted Genetic Variants

Gene:PAX3
Variant:p.Y312*
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PAX3

NM_181458.4:p.Y312*

Associated Papers

Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10.

Pingault V et al.

American Journal of Medical Genetics. Part A, 2014

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."