Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.Y255_T256Splc
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SLC26A4

NM_000441.2:p.Y255_T256Splc

Associated Papers

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

Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations.

Lee HJ et al.

Clinical Genetics, 2014

Clinical findings and PDS mutations in 15 patients with hearing loss and dilatation of the vestibular aqueduct.

Courtmans I et al.

The Journal of Laryngology and Otology, 2007

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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."