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An LDLR missense variant poses high risk of familial hypercholesterolemia in 30% of Greenlanders and offers potential of early cardiovascular disease intervention

9 Jun 2022

Abstract excerpt

p.G137S variant was recently shown to be associated with elevated lipid levels. Motivated by this, we aimed to investigate the effect of p.G137S on metabolic health and cardiovascular disease risk among Greenlanders to quantify its impact on the population. In a population-based Greenlandic cohort (n = 5,063), we tested for associations between the p.G137S variant and metabolic health traits as well as...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 36267056
DOI: 10.1016/j.xhgg.2022.100118

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