Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.R677fs
Back to variants list

SLC26A4

NM_000441.2:p.R677fs

Associated Papers

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population.

Jung J et al.

Scientific Reports, 2017

Vestibular function is associated with residual low-frequency hearing loss in patients with bi-allelic mutations in the SLC26A4 gene.

Jung J et al.

Hearing Research, 2016

Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations.

Lee HJ et al.

Clinical Genetics, 2014

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."