Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.N682S
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WFS1

NM_006005.3:p.N682S

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

The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.

Usami SI et al.

Human Genetics, 2022

34599366 (PubMed )
Supplement: 439_2021_2371_MOESM2_ESM.xlsx › SuppleTable2_20210811_final

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

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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."