Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.S380fs
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GJA3

NM_021954.4:p.S380fs

Associated Papers

Mutations of CX46/CX50 and Cataract Development.

Shi Y et al.

Frontiers in Molecular Biosciences, 2022

Novel Homozygous Missense Variant in GJA3 Connexin Domain Causing Congenital Nuclear and Cortical Cataracts.

Hassan AY et al.

International Journal of Molecular Sciences, 2021

Identification of a GJA3 Mutation in a Large Family with Bilateral Congenital Cataract.

Li B et al.

Dna and Cell Biology, 2016

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."