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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 19319977 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Autosomal dominant hypercholesterolemia (ADH), a major risk for coronary heart disease, is associated with mutations in the genes encoding the low-density lipoproteins receptor (LDLR), its ligand apolipoprotein B (APOB) or PCSK9 (Proprotein Convertase Subtilin Kexin 9).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.