Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.Y650H
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WFS1

NM_006005.3:p.Y650H

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

Identification of the rare variant p.Val803Met of WFS1 gene as a cause of Wolfram-like syndrome in a Chinese family.

Deng H et al.

Acta Diabetologica, 2020

WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.

Grenier J et al.

Ophthalmology, 2016

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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."