@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP864617.RAAzEOmiTt6pQCg3_Rn90eCJLmwu5-OqmFrmGxoGLlBOc130_head { this: np:hasAssertion dgn-np:NP864617.RAAzEOmiTt6pQCg3_Rn90eCJLmwu5-OqmFrmGxoGLlBOc130_assertion; np:hasProvenance dgn-np:NP864617.RAAzEOmiTt6pQCg3_Rn90eCJLmwu5-OqmFrmGxoGLlBOc130_provenance; np:hasPublicationInfo dgn-np:NP864617.RAAzEOmiTt6pQCg3_Rn90eCJLmwu5-OqmFrmGxoGLlBOc130_publicationInfo; a np:Nanopublication . dgn-np:NP864617.RAAzEOmiTt6pQCg3_Rn90eCJLmwu5-OqmFrmGxoGLlBOc130_assertion a np:Assertion . dgn-np:NP864617.RAAzEOmiTt6pQCg3_Rn90eCJLmwu5-OqmFrmGxoGLlBOc130_provenance a np:Provenance . dgn-np:NP864617.RAAzEOmiTt6pQCg3_Rn90eCJLmwu5-OqmFrmGxoGLlBOc130_publicationInfo a np:PublicationInfo . } dgn-np:NP864617.RAAzEOmiTt6pQCg3_Rn90eCJLmwu5-OqmFrmGxoGLlBOc130_assertion { miriam-gene:22796 a ncit:C16612 . lld:C0020597 a ncit:C7057 . dgn-gda:DGNfb51a10df45d1fab7c54d16292b99110 sio:SIO_000628 miriam-gene:22796, lld:C0020597; a sio:SIO_001121 . } dgn-np:NP864617.RAAzEOmiTt6pQCg3_Rn90eCJLmwu5-OqmFrmGxoGLlBOc130_provenance { dgn-np:NP864617.RAAzEOmiTt6pQCg3_Rn90eCJLmwu5-OqmFrmGxoGLlBOc130_assertion dcterms:description "[These results show that heterozygous PCSK9 missense mutations may associate with profound hypobetalipoproteinemia and constitute the first direct evidence in human that decrease of plasma LDLC concentrations associated to PCSK9 LOF mutations are attributable to an increased clearance rate of LDL.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:19762784; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP864617.RAAzEOmiTt6pQCg3_Rn90eCJLmwu5-OqmFrmGxoGLlBOc130_publicationInfo { this: dcterms:created "2015-08-25T14:46:25+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }