@prefix this: . @prefix sub: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-gda: . @prefix dgn-void: . sub:head { this: np:hasAssertion sub:assertion; np:hasProvenance sub:provenance; np:hasPublicationInfo sub:publicationInfo; a np:Nanopublication . } sub:assertion { dgn-gda:DGNbeac8816716be5e7d270e8745aa6fa4b sio:SIO_000628 miriam-gene:19, lld:C1704429; a sio:SIO_001122 . } sub:provenance { sub:assertion dcterms:description "[Direct sequencing of all coding regions and splice site junctions of other HDL candidate genes revealed no additional mutations, indicating that combined defective ABCA1 alleles may result in familial HDL deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_curated; sio:SIO_000772 miriam-pubmed:12009425; prov:wasDerivedFrom dgn-void:UNIPROT; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:UNIPROT pav:importedOn "2017-01-25"^^xsd:date . dgn-void:source_evidence_curated a eco:ECO_0000205; rdfs:comment "Gene-disease associations manually curated."@en; rdfs:label "DisGeNET evidence - CURATED"@en . } sub:publicationInfo { this: dcterms:created "2017-10-17T13:10:12+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 "v5.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v5.0.0" . }