Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.L281S
Back to variants list

GJA8

NM_005267.5:p.L281S

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

A novel mutation of p.F32I in GJA8 in human dominant congenital cataracts.

Dang FT et al.

International Journal of Ophthalmology, 2016

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."