Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP11985.RAQuqpVut3lVd2xDynr5q3KkmwUn602lCDNLxdOWWOg0c130_assertion> ?p ?o ?g. }
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- NP11985.RAQuqpVut3lVd2xDynr5q3KkmwUn602lCDNLxdOWWOg0c130_assertion type Assertion NP11985.RAQuqpVut3lVd2xDynr5q3KkmwUn602lCDNLxdOWWOg0c130_head.
- NP11985.RAQuqpVut3lVd2xDynr5q3KkmwUn602lCDNLxdOWWOg0c130_assertion wasGeneratedBy ECO_0000218 NP11985.RAQuqpVut3lVd2xDynr5q3KkmwUn602lCDNLxdOWWOg0c130_provenance.
- NP11985.RAQuqpVut3lVd2xDynr5q3KkmwUn602lCDNLxdOWWOg0c130_assertion wasDerivedFrom ctd_human-2016 NP11985.RAQuqpVut3lVd2xDynr5q3KkmwUn602lCDNLxdOWWOg0c130_provenance.
- NP11985.RAQuqpVut3lVd2xDynr5q3KkmwUn602lCDNLxdOWWOg0c130_assertion SIO_000772 12009418 NP11985.RAQuqpVut3lVd2xDynr5q3KkmwUn602lCDNLxdOWWOg0c130_provenance.
- NP11985.RAQuqpVut3lVd2xDynr5q3KkmwUn602lCDNLxdOWWOg0c130_assertion evidence source_evidence_curated NP11985.RAQuqpVut3lVd2xDynr5q3KkmwUn602lCDNLxdOWWOg0c130_provenance.
- NP11985.RAQuqpVut3lVd2xDynr5q3KkmwUn602lCDNLxdOWWOg0c130_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." NP11985.RAQuqpVut3lVd2xDynr5q3KkmwUn602lCDNLxdOWWOg0c130_provenance.