Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.W837*
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WFS1

NM_006005.3:p.W837*

Associated Papers

Selective proteasome degradation of C-terminally-truncated human WFS1 in pancreatic beta cells.

Tokuma H et al.

Febs Open Bio, 2023

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

Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.

Astuti D et al.

Human Mutation, 2017

28432734 (PubMed )
Supplement: HUMU-38-764-s001.xlsx › Sheet1

Early-onset urological disorders due to Wolfram syndrome: A case of neonatal onset.

Fukuma M et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2016

[Wolfram syndrome: clinical features, molecular genetics of WFS1 gene].

Tanabe K et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2015

Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features.

Matsunaga K et al.

Plos One, 2014

[Positional cloning of the gene(WFS1) for Wolfram syndrome].

Tanizawa Y et al.

Rinsho Byori. the Japanese Journal of Clinical Pathology, 2000

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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."