Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.F32L
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GJA8

NM_005267.5:p.F32L

Associated Papers

A novel mutation of p.F32I in GJA8 in human dominant congenital cataracts.

Dang FT et al.

International Journal of Ophthalmology, 2016

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

Mutations in connexin genes and disease.

Pfenniger A et al.

European Journal of Clinical Investigation, 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

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

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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."