Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.P838S
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WFS1

NM_006005.3:p.P838S

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.

Good cochlear implantation outcomes in subjects with mono-allelic WFS1-associated sensorineural hearing loss - a case series.

Fehrmann MLA et al.

International Journal of Audiology, 2025

Clinical Characteristics and Audiological Profiles of Patients with Pathogenic Variants of WFS1.

Jung J et al.

Journal of Clinical Medicine, 2024

Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review.

Aldè M et al.

Biomedicines, 2023

Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38.

Velde HM et al.

Genes, 2023

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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."