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Article

Association of Rare Predicted Loss-of-Function Variants in Cellular Pathways with Sub-Phenotypes in Age-Related Macular Degeneration.

Ophthalmology - 1 Mar 2018

Pietraszkiewicz Alexandra, van Asten Freekje, Kwong Alan, Ratnapriya Rinki, Abecasis Goncalo, Swaroop Anand, Chew Emily Y

Abstract excerpt

PURPOSE: To investigate the association of rare predicted loss-of-function (pLoF) variants within age-related macular degeneration (AMD) risk loci and AMD sub-phenotypes. DESIGN: Case-control study. PARTICIPANTS: Participants of AREDS, AREDS2, and Michigan Genomics Initiative. METHODS: Whole genome sequencing data were analyzed for rare pLoF variants (frequency <0.1%) in the regions of previously identified 52...

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Identifiers

PMID: 29224928
DOI: 10.1016/j.ophtha.2017.10.027
PMCID: PMC5820204

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