Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.N322insFs
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SLC26A4

NM_000441.2:p.N322insFs

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.

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

A Village in the Southeastern Region of Iran Harboring the c.716T>A (p.Val239Asp) Mutation in SLC26A4.

Zare Ashrafi F et al.

Archives of Iranian Medicine, 2024

Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.

Abolhassani A et al.

Npj Genomic Medicine, 2024

38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2

Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia).

Danilchenko VY et al.

Genes, 2023

Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss.

Danilchenko VY et al.

International Journal of Molecular Sciences, 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

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

Ghasemnejad T et al.

International Journal of Pediatric Otorhinolaryngology, 2017

Genetic causes of moderate to severe hearing loss point to modifiers.

Naz S et al.

Clinical Genetics, 2017

Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.

Beheshtian M et al.

Archives of Iranian Medicine, 2016

Identification of a founder mutation for Pendred syndrome in families from northwest Iran.

Mohseni M et al.

International Journal of Pediatric Otorhinolaryngology, 2014

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.

Mahdieh N et al.

Journal of Human Genetics, 2010

Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.

Kahrizi K et al.

European Journal of Pediatrics, 2009

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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."