Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.Y255_T256Splc
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SLC26A4

NM_000441.2:p.Y255_T256Splc

Associated Papers

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

A novel intronic variant causing aberrant splicing identified in two deaf Chinese siblings with enlarged vestibular aqueducts.

Wang S et al.

Molecular Genetics & Genomic Medicine, 2024

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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."