Varaico: Literature-Extracted Genetic Variants

Gene:CABP2
Variant:p.E156*
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CABP2

NM_016366.3:p.E156*

Associated Papers

Is CABP2-Associated Hearing Loss (DFNB93) a Gene Therapy Target? Preclinical Progress and Patient Registry.

Vona B et al.

Medcomm, 2025

Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant.

Bharadwaj T et al.

Molecular Genetics & Genomic Medicine, 2022

First reported CABP2-related non-syndromic hearing loss in Northern Europe.

Sheyanth IN et al.

Molecular Genetics & Genomic Medicine, 2021

A Novel Pathogenic Variant in the CABP2 Gene Causes Severe Nonsyndromic Hearing Loss in a Consanguineous Iranian Family.

Koohiyan M et al.

Audiology & Neuro-otology, 2019

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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."