Varaico: Literature-Extracted Genetic Variants

Gene:SOX10
Variant:p.L160P
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SOX10

NM_006941.4:p.L160P

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

Evolutionary Landscape of SOX Genes to Inform Genotype-to-Phenotype Relationships.

Underwood A et al.

Genes, 2023

Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.

Rojas RA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Novel SOX10 Mutations in Waardenburg Syndrome: Functional Characterization and Genotype-Phenotype Analysis.

Thongpradit S et al.

Frontiers in Genetics, 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."