Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.G389E
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SLC26A4

NM_000441.2:p.G389E

Associated Papers

The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.

Usami SI et al.

Human Genetics, 2022

34599366 (PubMed )
Supplement: 439_2021_2371_MOESM2_ESM.xlsx › SuppleTable2_20210811_final

Gene symbol: TMC1. Disease: Deafness.

Hilgert N

Human Genetics, 2008

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

Hilgert N et al.

Clinical Genetics, 2008

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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."