Varaico: Literature-Extracted Genetic Variants

Gene:SOX10
Variant:p.G38fs
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SOX10

NM_006941.4:p.G38fs

Associated Papers

New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing.

Li W et al.

Neural Plasticity, 2019

30936914 (PubMed )
Supplement: 7143458.f3.pdf

[Construction and analysis of recombinant eukaryotic expression plasmids for SOX10, the causative gene of Warrdenburg syndrome].

Zhang H et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2015

Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.

Zhang H et al.

Human Genetics, 2012

Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.

Chen H et al.

Biochemical and Biophysical Research Communications, 2010

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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."