Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.S411delFs
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WFS1

NM_006005.3:p.S411delFs

Associated Papers

A case of adult-onset Wolfram syndrome with compound heterozygous mutations of the WFS1 gene.

Lee J et al.

American Journal of Ophthalmology Case Reports, 2022

Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics.

Patel KA et al.

Diabetologia, 2022

34686905 (PubMed )
Supplement: 125_2021_5597_MOESM1_ESM.pdf

Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report.

Sobhani M et al.

Bmc Medical Genetics, 2020

WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.

Grenier J et al.

Ophthalmology, 2016

Wolfram syndrome and WFS1 gene.

Rigoli L et al.

Clinical Genetics, 2011

WS1 gene mutation analysis of Wolfram syndrome in a Chinese patient and a systematic review of literatures.

Yu G et al.

Endocrine, 2010

Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene.

Giuliano F et al.

Human Mutation, 2005

Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene.

Titah SM et al.

European Journal of Ophthalmology, 0

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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."