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Systematic elucidation of genetic mechanisms underlying cholesterol uptake

21 Apr 2023

Abstract excerpt

Genetic variation contributes greatly to LDL cholesterol (LDL-C) levels and coronary artery disease risk. By combining analysis of rare coding variants from the UK Biobank and genome-scale CRISPR-Cas9 knockout and activation screening, we substantially improve the identification of genes whose disruption alters serum LDL-C levels. We identify 21 genes in which rare coding variants significantly alter LDL-C levels...

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PMID: 37228746
DOI: 10.1016/j.xgen.2023.100304

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