Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.C400insFs
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SLC26A4

NM_000441.2:p.C400insFs

Associated Papers

Identification of a novel mutation in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct syndrome.

Zhang F et al.

International Journal of Pediatric Otorhinolaryngology, 2016

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

Identification of two novel mutations, c.232T>C and c.2006A>T, in SLC26A4 in a Chinese family associated with enlarged vestibular aqueduct.

Guo YF et al.

International Journal of Pediatric Otorhinolaryngology, 2010

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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."