Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.T527A
Back to variants list

SLC26A4

NM_000441.2:p.T527A

Associated Papers

Pendred syndrome with hyperthyroidism.

Kusano Y

Journal of Rural Medicine : Jrm, 2020

Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.

Miyagawa M et al.

Journal of Human Genetics, 2014

The responsible genes in Japanese deafness patients and clinical application using Invader assay.

Usami S et al.

Acta Oto-laryngologica, 2008

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."