Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.G46V
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GJA3

NM_021954.4:p.G46V

Associated Papers

Delineation of Novel Autosomal Recessive Mutation in GJA3 and Autosomal Dominant Mutations in GJA8 in Pakistani Congenital Cataract Families.

Micheal S et al.

Genes, 2018

Further evidence for P59L mutation in GJA3 associated with autosomal dominant congenital cataract.

Wang L et al.

Indian Journal of Ophthalmology, 2016

Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts.

Yu Y et al.

Scientific Reports, 2016

Connexinopathies: a structural and functional glimpse.

García IE et al.

Bmc Cell Biology, 2016

Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts.

Min HY et al.

Chinese Medical Journal, 2016

Connexin mutants and cataracts.

Beyer EC et al.

Frontiers in Pharmacology, 2013

Different consequences of cataract-associated mutations at adjacent positions in the first extracellular boundary of connexin50.

Tong JJ et al.

American Journal of Physiology. Cell Physiology, 2011

A novel mutation in γD-crystallin associated with autosomal dominant congenital cataract in a Chinese family.

Wang L et al.

Molecular Vision, 2011

Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population.

Devi RR et al.

Molecular Vision, 2005

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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."