id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_g5xusz4xbngjldrdro4jh3dqey	Gottfried Fuchs	Fibrinogen marburg a new genetic variant of fibrinogen	1977.0	17	.pdf	application/pdf	6630	650	56	Genetic and functional evidence relates a missense variant in B4GALT1 to lower LDL-C and fibrinogen Genetic and functional evidence relates a missense variant in B4GALT1 to lower LDL-C We identified novel associations between an Amishenriched missense variant (p.Asn352Ser) in a functional domain of beta-1,4b4galt1 in zebrafish embryos resulted in significantly lower LDL-C compared to control, establish B4GALT1 as a novel gene associated with lower LDL-C and fibrinogen and genome-wide significant association between an Amish-enriched missense variant in the betaAssociation analyses identify B4GALT1 p.Asn352Ser as a novel LDL-C variant To identify genetic variants associated with LDL-C, we performed an exome-wide (rs551564683, p.Asn352Ser) in B4GALT1 was strongly associated with 13.5 mg/dl lower LDL-C Association with other traits and B4GALT1 human knockout support a functional role of The p.Asn352Ser B4GALT1 missense variant that we identified in the Amish does not Fig. 3: B4GALT1 p.Asn352Ser is associated with decreased glycosylation.	./cache/work_g5xusz4xbngjldrdro4jh3dqey.pdf	./txt/work_g5xusz4xbngjldrdro4jh3dqey.txt