Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.V412L
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WFS1

NM_006005.3:p.V412L

Associated Papers

Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.

Komatsu K et al.

Scientific Reports, 2024

39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1

The genetic and clinical characteristics of WFS1 related diabetes in Chinese early onset type 2 diabetes.

Li Y et al.

Scientific Reports, 2023

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

A low-frequency GLIS3 variant associated with resistance to Japanese type 1 diabetes.

Awata T et al.

Biochemical and Biophysical Research Communications, 2013

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

Genetic variations in the WFS1 gene in Japanese with type 2 diabetes and bipolar disorder.

Kawamoto T et al.

Molecular Genetics and Metabolism, 2004

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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."