Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.M195V
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GJB6

NM_001110219.3:p.M195V

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

GJB2 allele variants and the associated audiologic features identified in Chinese patients with less severe idiopathic hearing loss.

Zhang J et al.

Genetic Testing and Molecular Biomarkers, 2011

GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment.

Dai P et al.

Journal of Translational Medicine, 2009

Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.

Batissoco AC et al.

Ear and Hearing, 2009

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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."