Varaico: Literature-Extracted Genetic Variants

Gene:SOX10
Variant:p.Q299fs
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SOX10

NM_006941.4:p.Q299fs

Associated Papers

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

A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II.

Chen S et al.

Neural Plasticity, 2020

Waardenburg Syndrome Type IV De Novo SOX10 Variant Causing Chronic Intestinal Pseudo-Obstruction.

Hogan AR et al.

Pediatric Gastroenterology, Hepatology & Nutrition, 2019

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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."