PR:000037668	presenilin-1 sequence variant L250V (human)	hPSEN1/var:L250V|UniProtKB:P49768-1, Leu-250, CHEBI:30015		associated_with_disease_progression	DOID:10652	Alzheimer's disease			Alzforum:psen1-l250v	EXP	NCBITaxon:9606		Alzforum:psen1-l250v	20180510	PRO:DAN