Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.G116V
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SLC26A4

NM_000441.2:p.G116V

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 › Sheet1

Molecular diagnosis of SLC26A4-related hereditary hearing loss in a group of patients from two provinces of Iran.

Koohiyan M et al.

Intractable & Rare Diseases Research, 2021

An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.

Ghasemnejad T et al.

International Journal of Pediatric Otorhinolaryngology, 2017

Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.

Bassot C et al.

Biochimie, 2017

A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran.

Babanejad M et al.

American Journal of Medical Genetics. Part A, 2012

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

Usami S et al.

Acta Oto-laryngologica, 2008

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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."