Varaico: Literature-Extracted Genetic Variants

Gene:OTOGL
Variant:p.T519A
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OTOGL

NM_001378609.3:p.T519A

Associated Papers

Biallelic Mutations in the Otogelin-Like Gene (OTOGL) Associated With Congenital Non-Syndromic Sensorineural Hearing Loss in a Chinese Family.

Dai X et al.

Molecular Genetics & Genomic Medicine, 2025

Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.

Yariz KO et al.

American Journal of Human Genetics, 2012

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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."