Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.R24L
Back to variants list

SLC26A4

NM_000441.2:p.R24L

Associated Papers

Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger.

Liu Q et al.

Nature Communications, 2023

37230976 (PubMed )
Supplement: 41467_2023_38303_MOESM3_ESM.xlsx › SLC26A4.gvtable.9

Molecular genetic landscape of hereditary hearing loss in Pakistan.

Naz S

Human Genetics, 2022

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.

Richard EM et al.

Human Mutation, 2019

Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling.

Rapp C et al.

Biochimica Et Biophysica Acta. Biomembranes, 2017

The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations.

Yan D et al.

Genetic Testing and Molecular Biomarkers, 2015

Ethnic-specific spectrum of GJB2 and SLC26A4 mutations: their origin and a literature review.

Tsukada K et al.

The Annals of Otology, Rhinology, and Laryngology, 2015

SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis.

Anwar S et al.

Journal of Human Genetics, 2009

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."