Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.N538_I539Splc
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SLC26A4

NM_000441.2:p.N538_I539Splc

Associated Papers

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

Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.

Lu YJ et al.

Medicine, 2015

26683941 (PubMed )
Supplement: medi-94-e2248-s002.xls › Sheet1

A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China.

Wang QJ et al.

Clinical Genetics, 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."