Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.N538_I539Splc
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SLC26A4

NM_000441.2:p.N538_I539Splc

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.

Assessing the Functional Significance of Novel and Rare Variants of the SLC26A4 Gene Found in Patients with Hearing Loss by Minigene Assay.

Danilchenko VY et al.

International Journal of Molecular Sciences, 2025

Unraveling the Genetic Landscape of Hearing Loss: A Comprehensive Study of Azeri Families in Ardabil, Iran.

Mohseni M et al.

Molecular Genetics & Genomic Medicine, 2025

Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries.

Al Mutery A et al.

Human Genetics, 2022

Insights of Noncanonical Splice-site Variants on RNA Splicing in Patients With Congenital Hypothyroidism.

Albader N et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

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

A novel SLC26A4 splicing mutation identified in two deaf Chinese twin sisters with enlarged vestibular aqueducts.

Zhou K et al.

Molecular Genetics & Genomic Medicine, 2020

Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients.

Almontashiri NAM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting.

Chen N et al.

The Journal of Molecular Diagnostics : Jmd, 2011

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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."