Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.R676H
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WFS1

NM_006005.3:p.R676H

Associated Papers

WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.

Lim HD et al.

Bmc Medical Genomics, 2023

Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome.

Mair H et al.

Ophthalmic Genetics, 2022

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

WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis.

Kobayashi M et al.

Plos One, 2018

Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.

De Franco E et al.

Diabetes, 2017

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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."