Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.R685C
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WFS1

NM_006005.3:p.R685C

Associated Papers

Topology of WFS1 Variants Linked With Islet Function and Higher Risk of Urological Symptoms in WFS1-Associated Disease.

Zhang JJ et al.

Pediatric Diabetes, 2025

Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.

Huerta-Chagoya A et al.

Nature Genetics, 2024

39379762 (PubMed )
Supplement: 41588_2024_1947_MOESM4_ESM.xlsx › T8

Clinical Characteristics and Audiological Profiles of Patients with Pathogenic Variants of WFS1.

Jung J et al.

Journal of Clinical Medicine, 2024

Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.

Schroeder P et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808701 (PubMed )
Supplement: media-2.xlsx › T6

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

Li Y et al.

Scientific Reports, 2023

Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young.

Colclough K et al.

Diabetes, 2022

Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1.

Qian X et al.

Scientific Reports, 2015

Wolfram syndrome and WFS1 gene.

Rigoli L et al.

Clinical Genetics, 2011

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

Cryns K et al.

Human Mutation, 2003

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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."