Varaico: Literature-Extracted Genetic Variants

Gene:SOX10
Variant:p.R159_R161ins1
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SOX10

NM_006941.4:p.R159_R161ins1

Associated Papers

Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene.

Ma J et al.

International Journal of Pediatric Otorhinolaryngology, 2016

Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.

Viñuela A et al.

American Journal of Medical Genetics. Part A, 2009

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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."