Varaico: Literature-Extracted Genetic Variants

Gene:SOX10
Variant:p.G321R
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SOX10

NM_006941.4:p.G321R

Associated Papers

Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations.

Chaoui A et al.

Human Molecular Genetics, 2015

Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.

Chaoui A et al.

Human Mutation, 2011

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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."