Varaico: Literature-Extracted Genetic Variants

Gene:SOX10
Variant:p.R119L
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SOX10

NM_006941.4:p.R119L

Associated Papers

Genetics of Waardenburg Syndrome in Africa: A Systematic Review.

Aboagye ET et al.

International Journal of Molecular Sciences, 2025

Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.

Mkaouar R et al.

Frontiers in Genetics, 2024

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

Underwood A et al.

Genes, 2023

SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.

Pingault V et al.

Journal of Medical Genetics, 2022

34667088 (PubMed )
Supplement: jmedgenet-2021-108105supp001.pdf
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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."