Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.Y454*
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WFS1

NM_006005.3:p.Y454*

Associated Papers

Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders.

Lee EM et al.

Frontiers in Genetics, 2023

37415600 (PubMed )
Supplement: DataSheet1.XLSX › Supplementary_Materials

The Precise Diagnosis of Wolfram Syndrome Type 1 Based on Next-Generation Sequencing.

Wang DD et al.

Frontiers in Genetics, 2019

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

Astuti D et al.

Human Mutation, 2017

Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.

De Franco E et al.

Diabetes, 2017

Wolfram syndrome and WFS1 gene.

Rigoli L et al.

Clinical Genetics, 2011

Hearing impairment in genotyped Wolfram syndrome patients.

Plantinga RF et al.

The Annals of Otology, Rhinology, and Laryngology, 2008

Clinical picture, evolution and peculiar molecular findings in a very large pedigree with Wolfram syndrome.

Lombardo F et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2005

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."