@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:NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k130_head { this: np:hasAssertion dgn-np:NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k130_assertion; np:hasProvenance dgn-np:NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k130_provenance; np:hasPublicationInfo dgn-np:NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k130_publicationInfo; a np:Nanopublication . dgn-np:NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k130_assertion a np:Assertion . dgn-np:NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k130_provenance a np:Provenance . dgn-np:NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k130_publicationInfo a np:PublicationInfo . } dgn-np:NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k130_assertion { miriam-gene:4942 a ncit:C16612 . lld:C1396243 a ncit:C7057 . dgn-gda:DGN0c81cc3d21a7e84547dfe221f20cd08e sio:SIO_000628 miriam-gene:4942, lld:C1396243; a sio:SIO_001121 . } dgn-np:NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k130_provenance { dgn-np:NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k130_assertion dcterms:description "[We measured L-ornithine oxidation in cultured skin fibroblasts from seven patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria (HHH) syndrome (McKusick 23897), and compared it with oxidation by ornithine aminotransferase deficient gyrate atrophy (McKusick 25887) cells and lysinuric protein intolerance (McKusick 22270) cells in which there is an ornithine transport abnormality at the plasma membrane.]. 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:2501580; 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:NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k130_publicationInfo { this: dcterms:created "2014-10-02T12:34:37+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" . }