Varaico: Literature-Extracted Genetic Variants

Gene:SOX10
Variant:p.N131H
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SOX10

NM_006941.4:p.N131H

Associated Papers

Role of nucleobase-specific interactions in the binding and bending of DNA by human male sex determination factor SRY.

Racca JD et al.

The Journal of Biological Chemistry, 2024

39168182 (PubMed )
Supplement: mmc1.docx

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

Li S et al.

Bmc Medical Genomics, 2022

36329483 (PubMed )
Supplement: 12920_2022_1379_MOESM4_ESM.pdf

Targeted Next-Generation Sequencing Identifies Separate Causes of Hearing Loss in One Deaf Family and Variable Clinical Manifestations for the p.R161C Mutation in SOX10.

Yu X et al.

Neural Plasticity, 2020

Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations.

Chaoui A et al.

Human Molecular Genetics, 2015

Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.

Chaoui A et al.

Human Mutation, 2011

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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."