Associated Papers
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Halford JL et al.
Nature Communications, 2022
36042188 (PubMed )
Supplement: 41467_2022_32009_MOESM4_ESM.xlsx › Supplementary_Data_1
Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.
Zhou Y et al.
Journal of Lipid Research, 2018
30076208 (PubMed )
Supplement: 10.1194_P086710_jlr.P086710-4.xlsx › APOB
Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride.
Buonuomo PS et al.
Journal of Clinical Lipidology, 0
Refinement of pathogenicity classification of variants associated with familial hypercholesterolemia: Implications for clinical diagnosis.
Di Costanzo A et al.
Journal of Clinical Lipidology, 0
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