Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.V412F
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SLC26A4

NM_000441.2:p.V412F

Associated Papers

Bilateral Sensorineural Hearing Loss in a Patient with Primary Ciliary Dyskinesia and Concomitant SH3TC2 Gene Mutation.

Aldè M et al.

Journal of Clinical Medicine, 2025

Classification and prediction of variants associated with hearing loss using sequence information in the vicinity of mutation sites.

Liu X et al.

Computational Biology and Chemistry, 2025

Whole Exome Sequencing of Non-Syndromic Hearing Loss Patients.

Naddafnia H et al.

Iranian Journal of Public Health, 2024

Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.

Landa P et al.

Bmc Medical Genetics, 2013

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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."