Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.N63S
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GJA8

NM_005267.5:p.N63S

Associated Papers

Mutation analysis in Chinese families with autosomal dominant hereditary cataracts.

Yang Z et al.

Current Eye Research, 2015

Connexin mutants and cataracts.

Beyer EC et al.

Frontiers in Pharmacology, 2013

A novel mutation in GJA3 associated with congenital Coppock-like cataract in a large Chinese family.

Zhang L et al.

Molecular Vision, 2012

Mutations in connexin genes and disease.

Pfenniger A et al.

European Journal of Clinical Investigation, 2011

A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13q.

Bennett TM 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

A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene.

Guleria K et al.

Molecular Vision, 2007

A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant zonular pulverulent cataract in a Hispanic family.

Addison PK et al.

Molecular Vision, 2006

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

Xia CH et al.

Journal of Cell Science, 2006

Diverse gap junctions modulate distinct mechanisms for fiber cell formation during lens development and cataractogenesis.

Xia CH et al.

Development (cambridge, England), 2006

Connexin46 mutations linked to congenital cataract show loss of gap junction channel function.

Pal JD et al.

American Journal of Physiology. Cell Physiology, 2000

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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."