Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.R32*
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GJB6

NM_001110219.3:p.R32*

Associated Papers

Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes.

Wonkam A et al.

Communications Biology, 2022

Is it time to report carrier state for recessive disorders in every microarray analysis?-A pilot model based on hearing loss genes deletions.

Maya I et al.

European Journal of Human Genetics : Ejhg, 2021

Mutation analysis of the Cx26, Cx30, and Cx31 genes in autosomal recessive nonsyndromic hearing impairment.

Gürtler N et al.

Acta Oto-laryngologica, 2008

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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."