Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.N538_I539Splc
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SLC26A4

NM_000441.2:p.N538_I539Splc

Associated Papers

The Importance of Newborn Genetic Screening for Early Identification of GJB2 and SLC26A4 Related Hearing Loss.

Wener ER et al.

Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2025

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."