@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:NP503568.RAlw-kajqy-ZTA5B6J5a2DbA0n0JqcGvdlIAJFMB2GD70130_head { this: np:hasAssertion dgn-np:NP503568.RAlw-kajqy-ZTA5B6J5a2DbA0n0JqcGvdlIAJFMB2GD70130_assertion; np:hasProvenance dgn-np:NP503568.RAlw-kajqy-ZTA5B6J5a2DbA0n0JqcGvdlIAJFMB2GD70130_provenance; np:hasPublicationInfo dgn-np:NP503568.RAlw-kajqy-ZTA5B6J5a2DbA0n0JqcGvdlIAJFMB2GD70130_publicationInfo; a np:Nanopublication . dgn-np:NP503568.RAlw-kajqy-ZTA5B6J5a2DbA0n0JqcGvdlIAJFMB2GD70130_assertion a np:Assertion . dgn-np:NP503568.RAlw-kajqy-ZTA5B6J5a2DbA0n0JqcGvdlIAJFMB2GD70130_provenance a np:Provenance . dgn-np:NP503568.RAlw-kajqy-ZTA5B6J5a2DbA0n0JqcGvdlIAJFMB2GD70130_publicationInfo a np:PublicationInfo . } dgn-np:NP503568.RAlw-kajqy-ZTA5B6J5a2DbA0n0JqcGvdlIAJFMB2GD70130_assertion { miriam-gene:10058 a ncit:C16612 . lld:C0239849 a ncit:C7057 . dgn-gda:DGN8d99c2ba1e90ba98e7c62dbe11890ecd sio:SIO_000628 miriam-gene:10058, lld:C0239849; a sio:SIO_001121 . } dgn-np:NP503568.RAlw-kajqy-ZTA5B6J5a2DbA0n0JqcGvdlIAJFMB2GD70130_provenance { dgn-np:NP503568.RAlw-kajqy-ZTA5B6J5a2DbA0n0JqcGvdlIAJFMB2GD70130_assertion dcterms:description "[Recently, mutations in two ABC-transporter genes, ABCC6 and ABCA12, have been demonstrated to underlie phenotypically different diseases affecting the skin (pseudoxanthoma elasticum and harlequin ichthyosis, respectively), attesting to the spectrum of ABC gene mutations in human diseases.]. 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:15996518; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP503568.RAlw-kajqy-ZTA5B6J5a2DbA0n0JqcGvdlIAJFMB2GD70130_publicationInfo { this: dcterms:created "2014-10-02T12:37:00+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }