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

Identification of known and novel genetic variants in sensorineural hearing loss: insights from whole exome sequencing in Indian families.

Jagannath K et al.

Molecular Biology Reports, 2025

Clinical and genetic analysis of children with hearing loss and bilateral enlarged vestibular aqueducts.

Nakano A et al.

International Journal of Pediatric Otorhinolaryngology, 2022

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

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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."