Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.D771H
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WFS1

NM_006005.3:p.D771H

Associated Papers

Genetic analysis of patients with low-frequency non-syndromic hearing loss.

Yu S et al.

Molecular Genetics and Genomics : Mgg, 2024

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

Lim HD et al.

Bmc Medical Genomics, 2023

Monogenic Causes of Low-Frequency Non-Syndromic Hearing Loss.

Gan NS et al.

Audiology & Neuro-otology, 2023

A Novel Missense WFS1 Variant: Expanding the Mutational Spectrum Associated with Nonsyndromic Low-Frequency Sensorineural Hearing Loss.

Ma J et al.

Biomed Research International, 2022

Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype.

Li J et al.

Biomed Research International, 2021

WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis.

Kobayashi M et al.

Plos One, 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

Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1.

Qian X et al.

Scientific Reports, 2015

Identification of a novel missense mutation in the WFS1 gene as a cause of autosomal dominant nonsyndromic sensorineural hearing loss in all-frequencies.

Bai X et al.

American Journal of Medical Genetics. Part A, 2014

Wolfram syndrome and WFS1 gene.

Rigoli L et al.

Clinical Genetics, 2011

Additional heterozygous 2507A>C mutation of WFS1 in progressive hearing loss at lower frequencies.

Fujikawa T et al.

The Laryngoscope, 2010

Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese.

Fukuoka H et al.

Journal of Human Genetics, 2007

Two families with nonsyndromic low-frequency hearing loss harbor novel mutations in Wolfram syndrome gene 1.

Gürtler N et al.

Journal of Molecular Medicine (berlin, Germany), 2005

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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."