Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.W867*
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WFS1

NM_006005.3:p.W867*

Associated Papers

Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.

De Franco E et al.

Diabetes, 2017

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

Grenier J et al.

Ophthalmology, 2016

Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders.

Chaussenot A et al.

Clinical Genetics, 2015

Neurologic features and genotype-phenotype correlation in Wolfram syndrome.

Chaussenot A et al.

Annals of Neurology, 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

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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."