Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.G22R
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GJA3

NM_021954.4:p.G22R

Associated Papers

Structural basis for the selective permeability of channels made of communicating junction proteins.

Ek-Vitorin JF et al.

Biochimica Et Biophysica Acta, 2013

Clinical and experimental advances in congenital and paediatric cataracts.

Churchill A et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2011

Gap junctions in inherited human disease.

Zoidl G et al.

Pflugers Archiv : European Journal of Physiology, 2010

Connexins in lens development and cataractogenesis.

Gong X et al.

The Journal of Membrane Biology, 2007

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

Xia CH et al.

Journal of Cell Science, 2006

A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance.

Burdon KP et al.

Journal of Medical Genetics, 2004

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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."