Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.E864G
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WFS1

NM_006005.3:p.E864G

Associated Papers

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

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

Yu S et al.

Molecular Genetics and Genomics : Mgg, 2024

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

Exome sequencing identifies a novel missense mutation of WFS1 as the cause of non-syndromic low-frequency hearing loss in a Chinese family.

Niu Z et al.

International Journal of Pediatric Otorhinolaryngology, 2017

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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."