Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.A397fs
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GJA3

NM_021954.4:p.A397fs

Associated Papers

Study of The Molecular Nature of Congenital Cataracts in Patients from The Volga-Ural Region.

Khidiyatova I et al.

Current Issues in Molecular Biology, 2023

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

A novel insertional mutation in the connexin 46 (gap junction alpha 3) gene associated with autosomal dominant congenital cataract in a Chinese family.

Zhou D et al.

Molecular Vision, 2013

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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."