Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.H323R
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WFS1

NM_006005.3:p.H323R

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

Wolfram syndrome and WFS1 gene.

Rigoli L et al.

Clinical Genetics, 2011

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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."