Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.H100fs
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GJB6

NM_001110219.3:p.H100fs

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

Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.

Yu X et al.

Orphanet Journal of Rare Diseases, 2020

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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."