Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.A586T
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WFS1

NM_006005.3:p.A586T

Associated Papers

Case Report: A novel mutation in WFS1 gene (c.1756G>A p.A586T) is responsible for early clinical features of cognitive impairment and recurrent ischemic stroke.

Chen Y et al.

Frontiers in Genetics, 2023

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

No association of mutations and mRNA expression of WFS1/wolframin with bipolar disorder in humans.

Kato T et al.

Neuroscience Letters, 2003

Mutation screening of the Wolfram syndrome gene in psychiatric patients.

Torres R et al.

Molecular Psychiatry, 2001

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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."