Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP638947.RAIGdwjmLAz0iPr3mvSALvYkgfecWumreceGTS3v9RtvQ#assertion> ?p ?o ?g. }
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- assertion description "[75 different LDL receptor mutations in 645 children with heterozygous familial hypercholesterolemia; in these children, null alleles were clearly associated with more elevated LDL cholesterol levels compared to receptor-defective mutations]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 15823280 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.