Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.V44E
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GJA3

NM_021954.4:p.V44E

Associated Papers

Genetic spectrum of congenital cataract with optional ocular and multisystem abnormalities.

Zhang H et al.

Bmc Medical Genomics, 2025

The impact of GJA8 SNPs on susceptibility to age-related cataract.

Yu X et al.

Human Genetics, 2018

30349978 (PubMed )
Supplement: 439_2018_1945_MOESM1_ESM.docx

Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts.

Min HY et al.

Chinese Medical Journal, 2016

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 connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract.

Yan M et al.

Molecular Vision, 2008

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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."