Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.Y291*
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WFS1

NM_006005.3:p.Y291*

Associated Papers

Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders.

Lee EM et al.

Frontiers in Genetics, 2023

37415600 (PubMed )
Supplement: DataSheet1.XLSX › Supplementary_Materials

Clinical and molecular assessment of 13 Iranian families with Wolfram syndrome.

Sobhani M et al.

Endocrine, 2019

Neurologic features and genotype-phenotype correlation in Wolfram syndrome.

Chaussenot A et al.

Annals of Neurology, 2011

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

Hearing impairment in genotyped Wolfram syndrome patients.

Plantinga RF et al.

The Annals of Otology, Rhinology, and Laryngology, 2008

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

Giuliano F et al.

Human Mutation, 2005

Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome families.

Domènech E et al.

Clinical Genetics, 2004

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."