Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.G674W
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WFS1

NM_006005.3:p.G674W

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

De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

Li W et al.

Investigative Ophthalmology & Visual Science, 2023

36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant

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

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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."