Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.V28V
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GJA3

NM_021954.4:p.V28V

Associated Papers

Genetic architecture of congenital cataracts: correlation of pathogenic variants with morphology and clinical outcomes.

Guo D et al.

Progress in Retinal and Eye Research, 2025

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

Hassan AY et al.

International Journal of Molecular Sciences, 2021

Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.

Green DJ et al.

Genes, 2020

32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal
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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."