Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.S381_G389delFs
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GJA3

NM_021954.4:p.S381_G389delFs

Associated Papers

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

Hassan AY et al.

International Journal of Molecular Sciences, 2021

Crystalline gene mutations in Turkish children with congenital cataracts.

Karahan M et al.

International Ophthalmology, 2021

Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract.

Berry V et al.

Eye (london, England), 2018

Identification of a novel GJA3 mutation in a large Chinese family with congenital cataract using targeted exome sequencing.

Yao Y et al.

Plos One, 2017

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

Li B et al.

Dna and Cell Biology, 2016

Molecular and structural analysis of genetic variations in congenital cataract.

Kumar M et al.

Molecular Vision, 2013

Mutation analysis of 12 genes in Chinese families with congenital cataracts.

Sun W et al.

Molecular Vision, 2011

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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."