Varaico: Literature-Extracted Genetic Variants

Gene:SOX10
Variant:p.S100fs
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SOX10

NM_006941.4:p.S100fs

Associated Papers

[Mechanisms of enhanced noise susceptibility in waardenburg syndrome Sox10 p.S100Rfs*9 mutant mice].

Xiao Y et al.

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2025

Waardenburg syndrome type II in a Chinese pedigree caused by frameshift mutation in the SOX10 gene.

Li L et al.

Bioscience Reports, 2021

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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."