Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.L11S
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GJA8

NM_005267.5:p.L11S

Associated Papers

Mechanisms linking connexin mutations to human diseases.

Kelly JJ et al.

Cell and Tissue Research, 2015

Identification of a novel GJA3 mutation in congenital nuclear cataract.

Yuan L et al.

Optometry and Vision Science : Official Publication of the American Academy of Optometry, 2015

Mutation analysis in Chinese families with autosomal dominant hereditary cataracts.

Yang Z et al.

Current Eye Research, 2015

Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing.

Guo Y et al.

Indian Journal of Biochemistry & Biophysics, 2013

Connexin mutants and cataracts.

Beyer EC et al.

Frontiers in Pharmacology, 2013

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

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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."