Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP638758.RAAr79MY7LRfK5JWmGm-awjSmlRlMPQFqKwLfLiFcvz4w#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000218 provenance.
- assertion wasDerivedFrom CTD_human provenance.
- assertion SIO_000772 12009418 provenance.
- assertion evidence source_evidence_curated provenance.
- assertion description "[A 'de novo' mutation of the LDL-receptor gene as the cause of familial hypercholesterolemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.