Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.R33L
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GJA8

NM_005267.5:p.R33L

Associated Papers

Zebrafish Optical Development Requires Regulated Water Permeability by Aquaporin 0.

Safrina O et al.

Investigative Ophthalmology & Visual Science, 2024

In silico analysis of non-synonymous single nucleotide polymorphisms (nsSNPs) in the human GJA3 gene associated with congenital cataract.

Zhang M et al.

Bmc Molecular and Cell Biology, 2020

Mutation analysis in Chinese families with autosomal dominant hereditary cataracts.

Yang Z et al.

Current Eye Research, 2015

Mutational screening of Indian families with hereditary congenital cataract.

Ponnam SP et al.

Molecular Vision, 2013

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."