Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP54834.RA0fuuwiDuSRFCnc06_kbNXgVpJ71Pqd-jLMQ9J7OLJ4Y#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 1493642 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[This receptor-binding defective apolipoprotein B variant is the cause of familial defective apo B-100 (FDB), an autosomal dominantly inherited disease, which leads to increased plasma cholesterol levels and premature atherosclerosis.Neither patient expressed FDB.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.