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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 11326085 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Two inherited forms of hypercholesterolemia result from loss of LDLR activity: autosomal dominant familial hypercholesterolemia (FH), caused by mutations in the LDLR gene, and autosomal recessive hypercholesterolemia (ARH), of unknown etiology.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.