Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.S73P
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GJA8

NM_005267.5:p.S73P

Associated Papers

Genetic Basis of Non-Syndromic Childhood Glaucoma Associated with Anterior Segment Dysgenesis: A Narrative Review.

Cronbach N et al.

Pharmaceuticals (basel, Switzerland), 2025

Screening the pathogenic causes of congenital cataract via whole exome sequencing technology in three families: Molecular genetics of congenital cataract.

Qi C et al.

Molecular Medicine Reports, 2023

Mutations of CX46/CX50 and Cataract Development.

Shi Y et al.

Frontiers in Molecular Biosciences, 2022

Molecular diagnosis of autosomal dominant congenital cataract in two families from North India reveals a novel and a known variant in GJA8 and GJA3.

Vanita V et al.

Frontiers in Pediatrics, 2022

Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants.

Bai D et al.

International Journal of Molecular Sciences, 2021

34360596 (PubMed )
Supplement: ijms-22-07832-s001.zip › ijms-1281081_supplemental-tables-June10-2021.pdf

GJA8 missense mutation disrupts hemichannels and induces cell apoptosis in human lens epithelial cells.

Li L et al.

Scientific Reports, 2019

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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."