Varaico: Literature-Extracted Genetic Variants

Gene:SOX10
Variant:p.G39*
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SOX10

NM_006941.4:p.G39*

Associated Papers

A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.

Li S et al.

Bmc Medical Genomics, 2022

36329483 (PubMed )
Supplement: 12920_2022_1379_MOESM4_ESM.pdf

Chronic constipation recognized as a sign of a SOX10 mutation in a patient with Waardenburg syndrome.

Arimoto Y et al.

Gene, 2014

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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."