Varaico: Literature-Extracted Genetic Variants

Gene:SOX10
Variant:p.S251insFs
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SOX10

NM_006941.4:p.S251insFs

Associated Papers

Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.

Sun F et al.

Orphanet Journal of Rare Diseases, 2024

38844942 (PubMed )
Supplement: 13023_2024_3220_MOESM8_ESM.xls › Sheet1

A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II.

Chen S et al.

Neural Plasticity, 2020

Identification of a de novo mutation of SOX10 in a Chinese patient with Waardenburg syndrome type IV.

Liang F et al.

International Journal of Pediatric Otorhinolaryngology, 2016

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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."