Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.N190S
Back to variants list

GJA8

NM_005267.5:p.N190S

Associated Papers

A novel missense mutation of GJA8 causes congenital cataract in a large Mauritanian family.

Hadrami M et al.

European Journal of Ophthalmology, 2019

Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma.

Zhou T et al.

Plos One, 2017

Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma.

Huang X et al.

International Journal of Molecular Medicine, 2015

Diagnostic accuracy of next generation sequencing-based genetic research for primary glaucoma: A systematic review and meta-analysis.

Liu Y et al.

Survey of Ophthalmology, 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."