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Article

Functional profiling of LDLR variants: Important evidence for variant classification: Functional profiling of LDLR variants.

Journal of clinical lipidology - 1 Jan 2000

Graça Rafael, Alves Ana Catarina, Zimon Magdalena, Pepperkok Rainer, Bourbon Mafalda

Abstract excerpt

BACKGROUND: Familial Hypercholesterolemia (FH) is a semidominant disorder of the lipid metabolism associated with premature atherosclerosis and coronary heart disease. So far, about 3,000 unique LDLR variants have been described, most of which lack functional evidence proving their effect on LDLR function, despite the important role that functional studies play in variant classification. OBJECTIVE: In this work,...

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PMID: 35568682
DOI: 10.1016/j.jacl.2022.04.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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