Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.A460_V463del0
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WFS1

NM_006005.3:p.A460_V463del0

Associated Papers

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

Sobhani M et al.

Endocrine, 2019

Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes.

Şıklar Z et al.

Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2018

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

Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype.

Rohayem J et al.

Diabetes Care, 2011

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

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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."