http://purl.uniprot.org/SHA-384/6F4B45DAA02C89E0C8E225BAC2B547956E8F9586AA05A21138EC0380170DCF7F5F9D4C785C6C811736E5A67ACEE0B33E | http://www.w3.org/2000/01/rdf-schema#comment | "Variant:p.Gly272Arg. Disease mentioned:Alzheimer's disease[DOID:10652], FAD. Evidence sentence:Novel variants were identified in genes involved in amyloid precursor protein metabolism such as PSEN1 (chr 14:73653575, W161C, tgg > tgT), PLAT (chr 8:42039530,G272R), and SORL1 (chr11:121414373,G601D). Abstract Section: RESULTS."xsd:string |