http://rdf.disgenet.org/nanopublications.trig#NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k130_head http://rdf.disgenet.org/nanopublications.trig#NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k130_assertion http://rdf.disgenet.org/nanopublications.trig#NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k130_provenance http://rdf.disgenet.org/nanopublications.trig#NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k130_assertion http://identifiers.org/ncbigene/4942 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C1396243 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/gene-disease-association.ttl#DGN0c81cc3d21a7e84547dfe221f20cd08e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4942 http://rdf.disgenet.org/gene-disease-association.ttl#DGN0c81cc3d21a7e84547dfe221f20cd08e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1396243 http://rdf.disgenet.org/gene-disease-association.ttl#DGN0c81cc3d21a7e84547dfe221f20cd08e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k130_provenance http://rdf.disgenet.org/nanopublications.trig#NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k130_assertion http://purl.org/dc/terms/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. http://rdf.disgenet.org/nanopublications.trig#NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/2501580 http://rdf.disgenet.org/nanopublications.trig#NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k http://purl.org/dc/terms/created 2014-10-02T12:34:37+02:00 http://rdf.disgenet.org/nanopublications.trig#NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP279260.RABInunHY8SyGwQFxdyobpZbmy1H778R3oDKoyd1Ekd8k http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0