Original paper
Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma
Abstract
Protein-altering variants that are protective against human disease provide in vivo validation of therapeutic targets. Here we use genotyping data from UK Biobank (n = 337,151 unrelated White British individuals) and FinnGen (n = 176,899) to conduct a search for protein-altering variants conferring lower intraocular pressure (IOP) and protection against glaucoma. Through rare protein-altering variant association analysis, we find a missense...
Paper Details
Title
Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma
Published Date
May 5, 2020
Journal
Volume
16
Issue
5
Pages
e1008682 - e1008682
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Notes
History