Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.G22R
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GJA1

NM_000165.5:p.G22R

Associated Papers

Death of Neurons following Injury Requires Conductive Neuronal Gap Junction Channels but Not a Specific Connexin.

Fontes JD et al.

Plos One, 2015

Gap junctions in inherited human disorders of the central nervous system.

Abrams CK et al.

Biochimica Et Biophysica Acta, 2012

Gap junctions or hemichannel-dependent and independent roles of connexins in cataractogenesis and lens development.

Jiang JX

Current Molecular Medicine, 2010

Knock-in of alpha3 connexin prevents severe cataracts caused by an alpha8 point mutation.

Xia CH et al.

Journal of Cell Science, 2006

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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."