Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.S380fs
Back to variants list

GJA3

NM_021954.4:p.S380fs

Associated Papers

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

Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family.

Zhang X et al.

Molecular Vision, 2012

A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree.

Ding X et al.

Molecular Vision, 2011

Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms.

Santhiya ST et al.

Molecular Vision, 2010

Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3).

Zhou Z et al.

Molecular Vision, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."