Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.D47A
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GJA3

NM_021954.4:p.D47A

Associated Papers

Do Connexin Mutants Cause Cataracts by Perturbing Glutathione Levels and Redox Metabolism in the Lens?

Jara O et al.

Biomolecules, 2020

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

A novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family.

Yang G et al.

Molecular Vision, 2011

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

Jiang JX

Current Molecular Medicine, 2010

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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."