Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.V28M
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GJA8

NM_005267.5:p.V28M

Associated Papers

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Jia X et al.

Molecular Psychiatry, 2021

33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2

Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia.

Vidya NG et al.

Ophthalmic Genetics, 2018

Connexin mutants and cataracts.

Beyer EC et al.

Frontiers in Pharmacology, 2013

Mutational screening of Indian families with hereditary congenital cataract.

Ponnam SP et al.

Molecular Vision, 2013

Mutations in connexin genes and disease.

Pfenniger A et al.

European Journal of Clinical Investigation, 2011

A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13q.

Bennett TM et al.

Molecular Vision, 2011

Gap junctions or hemichannel-dependent and independent roles of connexins in cataractogenesis and lens development.

Jiang JX

Current Molecular Medicine, 2010

A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene.

Guleria K et al.

Molecular Vision, 2007

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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."