Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.E830A
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WFS1

NM_006005.3:p.E830A

Associated Papers

Topology of WFS1 Variants Linked With Islet Function and Higher Risk of Urological Symptoms in WFS1-Associated Disease.

Zhang JJ et al.

Pediatric Diabetes, 2025

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

Lim HD et al.

Bmc Medical Genomics, 2023

Genotype and Clinical Characteristics of Patients with Wolfram Syndrome and WFS1-related Disorders.

Lee EM et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

WFS1 functions in ER export of vesicular cargo proteins in pancreatic β-cells.

Wang L et al.

Nature Communications, 2021

Effect of 4-phenylbutyrate and valproate on dominant mutations of WFS1 gene in Wolfram syndrome.

Batjargal K et al.

Journal of Endocrinological Investigation, 2020

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

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.

Ellard S et al.

Diabetologia, 2013

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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."