Varaico: Literature-Extracted Genetic Variants

Gene:SOX10
Variant:p.L42_R43delins
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SOX10

NM_006941.4:p.L42_R43delins

Associated Papers

Identification of a de novo mutation of SOX10 in a Chinese patient with Waardenburg syndrome type IV.

Liang F et al.

International Journal of Pediatric Otorhinolaryngology, 2016

Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene.

Ma J et al.

International Journal of Pediatric Otorhinolaryngology, 2016

De novo dominant mutation of SOX10 gene in a Chinese family with Waardenburg syndrome type II.

Chen K et al.

International Journal of Pediatric Otorhinolaryngology, 2014

Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome.

Jiang L et al.

Biochemical and Biophysical Research Communications, 2011

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."