Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.V434del1
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WFS1

NM_006005.3:p.V434del1

Associated Papers

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

Wang DD et al.

Frontiers in Genetics, 2019

Clinical Characteristics of Wolfram Syndrome in Chinese Population and a Novel Frameshift Mutation in WFS1.

Duan L et al.

Frontiers in Endocrinology, 2018

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

The novel compound heterozygous mutations, V434del and W666X, in WFS1 gene causing the Wolfram syndrome in a Chinese family.

Hong J et al.

Endocrine, 2009

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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."