Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.I823I
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WFS1

NM_006005.3:p.I823I

Associated Papers

Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features.

Matsunaga K et al.

Plos One, 2014

25211237 (PubMed )
Supplement: pone.0106906.s001.pdf

Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese.

Fukuoka H et al.

Journal of Human Genetics, 2007

Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.

Cryns K et al.

Human Mutation, 2003

WFS1 mutations in Spanish patients with diabetes mellitus and deafness.

Domènech E et al.

European Journal of Human Genetics : Ejhg, 2002

WFS1/wolframin mutations, Wolfram syndrome, and associated diseases.

Khanim F et al.

Human Mutation, 2001

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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."