Varaico: Literature-Extracted Genetic Variants

Gene:SOX10
Variant:p.A254delFs
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SOX10

NM_006941.4:p.A254delFs

Associated Papers

A novel frameshift mutation of SOX10 identified in Waardenburg syndrome type 2.

Han W et al.

Human Molecular Genetics, 2025

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

Li S et al.

Bmc Medical Genomics, 2022

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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."