Varaico: Literature-Extracted Genetic Variants

Gene:SOX10
Variant:p.S374delFs
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SOX10

NM_006941.4:p.S374delFs

Associated Papers

Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes.

Mutai H et al.

Orphanet Journal of Rare Diseases, 2022

A clinical and genetic study of 16 Japanese families with Waardenburg syndrome.

Minami SB et al.

Gene, 2019

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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."