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_2
Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.
Di Taranto MD et al.
Clinical Genetics, 2021
Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.
Pirillo A et al.
Atherosclerosis. Supplements, 2017
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