Varaico: Literature-Extracted Genetic Variants

Gene:SOX10
Variant:p.D6D
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SOX10

NM_006941.4:p.D6D

Associated Papers

A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.

Li Q et al.

Bmc Medical Genomics, 2022

35864542 (PubMed )
Supplement: 12920_2022_1315_MOESM2_ESM.xlsx › RawData

Common Myelin Regulatory Factor Gene Variants Predisposing to Excellence in Sports.

Pepłońska B et al.

Genes, 2021

33670313 (PubMed )
Supplement: genes-12-00262-s001.zip › Table_S1.xlsx › Arkusz6

Association analysis of the SOX10 polymorphism with Hirschsprung disease in the Han Chinese population.

Pan ZW et al.

Journal of Pediatric Surgery, 2011

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

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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."