http://rdf.disgenet.org/resource/nanopub/NP1200755.RALLfNEuDbq8-cw27wCN03yVRueCPd4WwPeUdsMNmJR2U130_head http://rdf.disgenet.org/resource/nanopub/NP1200755.RALLfNEuDbq8-cw27wCN03yVRueCPd4WwPeUdsMNmJR2U http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1200755.RALLfNEuDbq8-cw27wCN03yVRueCPd4WwPeUdsMNmJR2U130_assertion http://rdf.disgenet.org/resource/nanopub/NP1200755.RALLfNEuDbq8-cw27wCN03yVRueCPd4WwPeUdsMNmJR2U http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1200755.RALLfNEuDbq8-cw27wCN03yVRueCPd4WwPeUdsMNmJR2U130_provenance http://rdf.disgenet.org/resource/nanopub/NP1200755.RALLfNEuDbq8-cw27wCN03yVRueCPd4WwPeUdsMNmJR2U http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1200755.RALLfNEuDbq8-cw27wCN03yVRueCPd4WwPeUdsMNmJR2U130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1200755.RALLfNEuDbq8-cw27wCN03yVRueCPd4WwPeUdsMNmJR2U http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1200755.RALLfNEuDbq8-cw27wCN03yVRueCPd4WwPeUdsMNmJR2U130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1200755.RALLfNEuDbq8-cw27wCN03yVRueCPd4WwPeUdsMNmJR2U130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1200755.RALLfNEuDbq8-cw27wCN03yVRueCPd4WwPeUdsMNmJR2U130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1200755.RALLfNEuDbq8-cw27wCN03yVRueCPd4WwPeUdsMNmJR2U130_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/C0018425 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/resource/gda/DGN7edead6afc37d952a08e72292f418327 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4942 http://rdf.disgenet.org/resource/gda/DGN7edead6afc37d952a08e72292f418327 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0018425 http://rdf.disgenet.org/resource/gda/DGN7edead6afc37d952a08e72292f418327 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1200755.RALLfNEuDbq8-cw27wCN03yVRueCPd4WwPeUdsMNmJR2U130_provenance http://rdf.disgenet.org/resource/nanopub/NP1200755.RALLfNEuDbq8-cw27wCN03yVRueCPd4WwPeUdsMNmJR2U130_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/resource/nanopub/NP1200755.RALLfNEuDbq8-cw27wCN03yVRueCPd4WwPeUdsMNmJR2U130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1200755.RALLfNEuDbq8-cw27wCN03yVRueCPd4WwPeUdsMNmJR2U130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/2501580 http://rdf.disgenet.org/resource/nanopub/NP1200755.RALLfNEuDbq8-cw27wCN03yVRueCPd4WwPeUdsMNmJR2U130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1200755.RALLfNEuDbq8-cw27wCN03yVRueCPd4WwPeUdsMNmJR2U130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v4.0.0/void/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1200755.RALLfNEuDbq8-cw27wCN03yVRueCPd4WwPeUdsMNmJR2U130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1200755.RALLfNEuDbq8-cw27wCN03yVRueCPd4WwPeUdsMNmJR2U http://purl.org/dc/terms/created 2016-05-13T12:50:50+02:00 http://rdf.disgenet.org/resource/nanopub/NP1200755.RALLfNEuDbq8-cw27wCN03yVRueCPd4WwPeUdsMNmJR2U http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1200755.RALLfNEuDbq8-cw27wCN03yVRueCPd4WwPeUdsMNmJR2U http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1200755.RALLfNEuDbq8-cw27wCN03yVRueCPd4WwPeUdsMNmJR2U http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1200755.RALLfNEuDbq8-cw27wCN03yVRueCPd4WwPeUdsMNmJR2U http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1200755.RALLfNEuDbq8-cw27wCN03yVRueCPd4WwPeUdsMNmJR2U http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1200755.RALLfNEuDbq8-cw27wCN03yVRueCPd4WwPeUdsMNmJR2U http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1200755.RALLfNEuDbq8-cw27wCN03yVRueCPd4WwPeUdsMNmJR2U http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1200755.RALLfNEuDbq8-cw27wCN03yVRueCPd4WwPeUdsMNmJR2U http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1200755.RALLfNEuDbq8-cw27wCN03yVRueCPd4WwPeUdsMNmJR2U http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1200755.RALLfNEuDbq8-cw27wCN03yVRueCPd4WwPeUdsMNmJR2U http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1200755.RALLfNEuDbq8-cw27wCN03yVRueCPd4WwPeUdsMNmJR2U http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0