Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP3098.RA-IB2my_2aNqN1C7VMkgJ_YXHLe4C4C2CwEXRoXBDiK8#assertion> ?p ?o ?g. }
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- assertion description "[Homozygosity for mutations in ABC transporter A1 (ABCA1) causes Tangier disease, a rare HDL-deficiency syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_curated provenance.
- assertion SIO_000772 15520867 provenance.
- assertion wasDerivedFrom UNIPROT provenance.
- assertion wasGeneratedBy ECO_0000218 provenance.