Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP638259.RA7vGY0AL6CZKVenta5qBNDZ1TC7o_iR_GATVXcTaa3Vc#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 10978268 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.