Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.C486_I487insFs
Back to variants list

SLC26A4

NM_000441.2:p.C486_I487insFs

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.

Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.

Gal M et al.

Bmc Medical Genomics, 2016

27175728 (PubMed )
Supplement: 12920_2016_184_MOESM1_ESM.xls › S1

Molecular and functional characterization of human pendrin and its allelic variants.

Dossena S et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2011

Functional characterization of pendrin mutations found in the Israeli and Palestinian populations.

Dossena S et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2011

Integration of human and mouse genetics reveals pendrin function in hearing and deafness.

Dror AA et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2011

Deafness genes in Israel: implications for diagnostics in the clinic.

Brownstein Z et al.

Pediatric Research, 2009

A novel SLC26A4 (PDS) deafness mutation retained in the endoplasmic reticulum.

Brownstein ZN et al.

Archives of Otolaryngology--head & Neck Surgery, 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."