Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.F881_F882delFs
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WFS1

NM_006005.3:p.F881_F882delFs

Associated Papers

Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.

Billings LK et al.

Endocrinology, Diabetes & Metabolism, 2022

36208030 (PubMed )
Supplement: EDM2-5-e372-s001.xlsx › eTable_1

Comprehensive Genetic Analysis Unraveled the Missing Heritability in a Chinese Cohort With Wolfram Syndrome 1: Clinical and Genetic Findings.

Zhang X et al.

Investigative Ophthalmology & Visual Science, 2022

Prevalence and phenotypic features of diabetes due to recessive, non-syndromic WFS1 mutations.

Zhu M et al.

European Journal of Endocrinology, 2021

The Epidemiology and Genetic Analysis of Children With Idiopathic Type 1 Diabetes in the State of Qatar.

Abdel-Karim T et al.

Journal of the Endocrine Society, 2021

Bladder dysfunction in Wolfram syndrome is highly prevalent and progresses to megacystis.

Wragg R et al.

Journal of Pediatric Surgery, 2018

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

Astuti D et al.

Human Mutation, 2017

Identification of unsuspected Wolfram syndrome cases through clinical assessment and WFS1 gene screening in type 1 diabetes mellitus patients.

Blanco-Aguirre ME et al.

Gene, 2015

Wolfram syndrome and WFS1 gene.

Rigoli L et al.

Clinical Genetics, 2011

Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome.

Gasparin MR et al.

European Journal of Endocrinology, 2009

A new mutation in a patient with Wolfram syndrome.

Cárcamo Fonfría A et al.

Neurologia, 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."