Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.D47N
Back to variants list

GJA1

NM_000165.5:p.D47N

Associated Papers

Identification of a New Mutation p.P88L in Connexin 50 Associated with Dominant Congenital Cataract.

Jin A et al.

Frontiers in Cell and Developmental Biology, 2022

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

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

Jiang JX

Current Molecular Medicine, 2010

Molecular characteristics of inherited congenital cataracts.

Huang B et al.

European Journal of Medical Genetics, 0

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."