Varaico: Literature-Extracted Genetic Variants

Gene:PAX3
Variant:p.R273K
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PAX3

NM_181458.4:p.R273K

Associated Papers

Review and update of mutations causing Waardenburg syndrome.

Pingault V et al.

Human Mutation, 2010

Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.

Carey ML et al.

Journal of Medical Genetics, 1998

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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."