Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.A276V
Back to variants list

GJA3

NM_021954.4:p.A276V

Associated Papers

In silico analysis of non-synonymous single nucleotide polymorphisms (nsSNPs) in the human GJA3 gene associated with congenital cataract.

Zhang M et al.

Bmc Molecular and Cell Biology, 2020

32143568 (PubMed )
Supplement: 12860_2020_252_MOESM1_ESM.xlsx › Sheet1

The impact of GJA8 SNPs on susceptibility to age-related cataract.

Yu X et al.

Human Genetics, 2018

30349978 (PubMed )
Supplement: 439_2018_1945_MOESM1_ESM.docx

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

A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract.

Yan M et al.

Molecular Vision, 2008

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."