Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.R23K
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GJA8

NM_005267.5:p.R23K

Associated Papers

Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts.

Yu Y et al.

Scientific Reports, 2016

Cataracts are caused by alterations of a critical N-terminal positive charge in connexin50.

Thomas BC et al.

Investigative Ophthalmology & Visual Science, 2008

Molecular characteristics of inherited congenital cataracts.

Huang B et al.

European Journal of Medical Genetics, 0

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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."