Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.C18Y
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SLC26A4

NM_000441.2:p.C18Y

Associated Papers

Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct.

Bernardinelli E et al.

Molecular Medicine (cambridge, Mass.), 2025

40121402 (PubMed )
Supplement: 10020_2025_1159_MOESM2_ESM.docx

Analysis of mutations in the FOXI1 and KCNJ10 genes in infants with a single-allele SLC26A4 mutation.

Zhao X et al.

Bioscience Trends, 2019

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."