Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.N558S
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SLC26A4

NM_000441.2:p.N558S

Associated Papers

High prevalence of syndromic hearing loss in Mexican children undergoing cochlear implantation.

Rodriguez-Valero M et al.

Laryngoscope Investigative Otolaryngology, 2024

38855775 (PubMed )
Supplement: LIO2-9-e1291-s001.xlsx › Supp_Table_2

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

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

Lezirovitz K et al.

Human Genetics, 2022

Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.

Cengiz FB et al.

International Journal of Pediatric Otorhinolaryngology, 2017

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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."