Varaico: Literature-Extracted Genetic Variants

Gene:CLRN2
Variant:p.T165K
Back to variants list

CLRN2

NM_001079827.2:p.T165K

Associated Papers

A novel CLRN2 variant: expanding the mutation spectrum and its critical role in isolated hearing impairment.

Ahmad F et al.

Genes & Genomics, 2025

Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss.

Mendia C et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2024

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.

Vona B et al.

Human Genetics, 2021

Clarin-2 is essential for hearing by maintaining stereocilia integrity and function.

Dunbar LA et al.

Embo Molecular Medicine, 2019

31448880 (PubMed )
Supplement: EMMM-11-e10288-s005.pdf
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."