Varaico: Literature-Extracted Genetic Variants

Gene:SOX10
Variant:p.H306fs
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SOX10

NM_006941.4:p.H306fs

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

Waardenburg syndrome type 4: report of two new cases caused by SOX10 mutations in Spain.

Fernández RM et al.

American Journal of Medical Genetics. Part A, 2014

A Scoring System to Predict the Severity of Hirschsprung Disease at Diagnosis and Its Correlation With Molecular Genetics.

Núñez-Ramos R et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0

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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."