Articles with "plof mutation" as a keyword



Clinical Deep Phenotyping of ABCA7 Mutation Carriers

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Published in 2022 at "Neurology: Genetics"

DOI: 10.1212/nxg.0000000000000655

Abstract: Background and Objectives Putative loss-of-function (pLOF) ABCA7 variants that increase Alzheimer disease (AD) risk were identified; however, deep phenotypic characterization of these variants in mutation carriers is limited. We aimed to obtain deep clinical phenotypes… read more here.

Keywords: plof mutation; mutation carriers; abca7 plof; deep phenotyping ... See more keywords