Article

LDLR variant classification through activity-normalized prime editing screening

2025-12-18

Abstract excerpt

<h4>Background</h4> Inherited variants in the LDL receptor ( LDLR ) gene are the most common cause of familial hypercholesterolemia (FH), significantly increasing coronary artery disease risk. Early identification of pathogenic LDLR variants enables prompt intervention with lipid-lowering therapies; however, the majority of LDLR variants observed in the population have uncertain or absent clinical classificatio...

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Literature Corpus work: 9daa68e7-9a89-574b-8767-54b96f524ed4
DOI: 10.64898/2025.12.16.694467

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