Varaico: Literature-Extracted Genetic Variants

Gene:SOX10
Variant:p.Y313_A316delFs
Back to variants list

SOX10

NM_006941.4:p.Y313_A316delFs

Associated Papers

Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome.

Huang S et al.

Gene Therapy, 2022

Establishment of an iPSC line (JTUi002-A) from a patient with Waardenburg syndrome caused by a SOX10 mutation and carrying a GJB2 mutation.

Wang P et al.

Stem Cell Research, 2020

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."