Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.V509_Y513del0
Back to variants list

WFS1

NM_006005.3:p.V509_Y513del0

Associated Papers

Gonadal function in males with WFS1 spectrum disorder (Wolfram syndrome)-A European cohort perspective.

Rohayem J et al.

Andrology, 2026

Neurosensory Affectation in Patients Affected by Wolfram Syndrome: Descriptive and Longitudinal Analysis.

Esteban-Bueno G et al.

Healthcare (basel, Switzerland), 2023

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

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

Expansion of the clinical ocular spectrum of Wolfram Syndrome in a family carrying a novel WFS1 gene deletion.

Chacón-Camacho O et al.

Ophthalmic Genetics, 2013

Wolfram syndrome and WFS1 gene.

Rigoli L et al.

Clinical Genetics, 2011

Two Cases of Wolfram Syndrome Who Were Initially Diagnosed With Type 1 Diabetes.

Silvestri F et al.

Aace Clinical Case Reports, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."