Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.V84I
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GJB6

NM_001110219.3:p.V84I

Associated Papers

X-linked Charcot Marie Tooth mutations alter CO2 sensitivity of connexin32 hemichannels.

Butler J et al.

Frontiers in Cellular Neuroscience, 2023

Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.

Adadey SM et al.

Life (basel, Switzerland), 2020

Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia.

Plevova P et al.

Medicina (kaunas, Lithuania), 2018

Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.

Yuan Y et al.

Journal of Translational Medicine, 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."