Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.A602V
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WFS1

NM_006005.3:p.A602V

Associated Papers

WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.

Lim HD et al.

Bmc Medical Genomics, 2023

WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis.

Kobayashi M et al.

Plos One, 2018

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism

Identification of HPV integration and gene mutation in HeLa cell line by integrated analysis of RNA-Seq and MS/MS data.

Sun H et al.

Journal of Proteome Research, 2015

25698088 (PubMed )
Supplement: pr500944c_si_009.xlsx › SNV

Wolfram syndrome and WFS1 gene.

Rigoli L et al.

Clinical Genetics, 2011

Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.

Hildebrand MS et al.

American Journal of Medical Genetics. Part A, 2008

Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese.

Fukuoka H et al.

Journal of Human Genetics, 2007

Genetic variations in the WFS1 gene in Japanese with type 2 diabetes and bipolar disorder.

Kawamoto T et al.

Molecular Genetics and Metabolism, 2004

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."