Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP3183.RAOD3Q_m92Pl5fUq-GS6sD6J8F8OwiY4mtPFts5YpOdCA#assertion> ?p ?o ?g. }
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- assertion description "[We have shown that Tangier disease, a rare and severe form of HDL deficiency characterised by a biochemical defect in cellular cholesterol efflux, is caused by mutations in the ATP-binding-cassette (ABC1) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 10533863 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.