Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.A411P
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SLC26A4

NM_000441.2:p.A411P

Associated Papers

Functional Studies of Deafness-Associated Pendrin and Prestin Variants.

Takahashi S et al.

International Journal of Molecular Sciences, 2024

Functional studies of deafness-associated pendrin and prestin variants.

Takahashi S et al.

Biorxiv : the Preprint Server for Biology, 2024

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

SLC26A4 Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management.

Tawalbeh M et al.

Genes, 2022

Genetic etiology of non-syndromic hearing loss in Latin America.

Lezirovitz K et al.

Human Genetics, 2022

A pathogenic variant in SLC26A4 is associated with Pendred syndrome in a consanguineous Iranian family.

Pourahmadiyan A et al.

International Journal of Audiology, 2019

Homology of pendrin, sodium-iodide symporter and apical iodide transporter.

Benvenga S et al.

Frontiers in Bioscience (landmark Edition), 2018

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

Bassot C et al.

Biochimie, 2017

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease

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

Usami S et al.

Acta Oto-laryngologica, 2008

Clinical and molecular analysis of three Mexican families with Pendred's syndrome.

Gonzalez Trevino O et al.

European Journal of Endocrinology, 2001

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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."