Varaico: Literature-Extracted Genetic Variants

Gene:SOX10
Variant:p.Q78*
Back to variants list

SOX10

NM_006941.4:p.Q78*

Associated Papers

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

Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome.

Li X et al.

Human Genetics, 2023

A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.

Li S et al.

Bmc Medical Genomics, 2022

36329483 (PubMed )
Supplement: 12920_2022_1379_MOESM4_ESM.pdf

Analysis of genotype-phenotype relationships in 90 Chinese probands with Waardenburg syndrome.

Wang G et al.

Human Genetics, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."