Varaico: Literature-Extracted Genetic Variants

Gene:SOX10
Variant:p.Q197*
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SOX10

NM_006941.4:p.Q197*

Associated Papers

Waardenburg Syndrome: Review of Genotype-Phenotype Relationships in 30 Patients in Hong Kong.

Poon JYY et al.

American Journal of Medical Genetics. Part A, 2025

Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.

Sun F et al.

Orphanet Journal of Rare Diseases, 2024

38844942 (PubMed )
Supplement: 13023_2024_3220_MOESM8_ESM.xls › Sheet1

A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10.

Suzuki N et al.

Bmc Pediatrics, 2018

29792164 (PubMed )
Supplement: 12887_2018_1139_MOESM5_ESM.docx

Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome.

Sun L et al.

Scientific Reports, 2016

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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."