Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.L79fs
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GJB6

NM_001110219.3:p.L79fs

Associated Papers

The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates.

Kriukelis R et al.

European Journal of Human Genetics : Ejhg, 2025

Systematic review and meta-analysis of pathogenic GJB2 variants in the Asian population.

Ozgur Z et al.

International Journal of Pediatric Otorhinolaryngology, 2025

Hearing and Hearing Loss Progression in Patients with GJB2 Gene Mutations: A Long-Term Follow-Up.

Sakata A et al.

International Journal of Molecular Sciences, 2023

Systematic Review of Pathogenic GJB2 Variants in the Latino Population.

Bouzaher MH et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020

Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.

Beheshtian M et al.

Archives of Iranian Medicine, 2016

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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."