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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 17347910 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.