Article

Rare protein-altering variants in <i>ANGPTL7</i> lower intraocular pressure and protect against glaucoma

2019-06-26

Abstract excerpt

Protein-altering variants that are protective against human disease provide in vivo validation of therapeutic targets. Here we use genotyping data in UK Biobank and FinnGen to conduct a search for protein-altering variants conferring lower intraocular pressure (IOP) and protection against glaucoma. Through protein-altering variant association analysis we find a missense variant in UK Biobank (rs28991009 (MAF=0.8%...

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Literature Corpus work: a576495d-5566-5842-98e0-de0a6bd65141
DOI: 10.1101/677443

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