Varaico: Literature-Extracted Genetic Variants

Gene:SOX10
Variant:p.Y369insFs
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SOX10

NM_006941.4:p.Y369insFs

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

[Analysis of genetic variation in patients with Waardenburg syndrome type Ⅱ by next generation sequencing].

Ren SM et al.

Zhonghua Yi Xue Za Zhi, 2020

Identification of six novel variants in Waardenburg syndrome type II by next-generation sequencing.

Ren S et al.

Molecular Genetics & Genomic Medicine, 2020

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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."