http://rdf.disgenet.org/resource/nanopub/NP804309.RAFrgmJHHOyHdXAWGq3Oycm9-F_UKCXibFl_eTQwUllvk130_head http://rdf.disgenet.org/resource/nanopub/NP804309.RAFrgmJHHOyHdXAWGq3Oycm9-F_UKCXibFl_eTQwUllvk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP804309.RAFrgmJHHOyHdXAWGq3Oycm9-F_UKCXibFl_eTQwUllvk130_assertion http://rdf.disgenet.org/resource/nanopub/NP804309.RAFrgmJHHOyHdXAWGq3Oycm9-F_UKCXibFl_eTQwUllvk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP804309.RAFrgmJHHOyHdXAWGq3Oycm9-F_UKCXibFl_eTQwUllvk130_provenance http://rdf.disgenet.org/resource/nanopub/NP804309.RAFrgmJHHOyHdXAWGq3Oycm9-F_UKCXibFl_eTQwUllvk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP804309.RAFrgmJHHOyHdXAWGq3Oycm9-F_UKCXibFl_eTQwUllvk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP804309.RAFrgmJHHOyHdXAWGq3Oycm9-F_UKCXibFl_eTQwUllvk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP804309.RAFrgmJHHOyHdXAWGq3Oycm9-F_UKCXibFl_eTQwUllvk130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP804309.RAFrgmJHHOyHdXAWGq3Oycm9-F_UKCXibFl_eTQwUllvk130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP804309.RAFrgmJHHOyHdXAWGq3Oycm9-F_UKCXibFl_eTQwUllvk130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP804309.RAFrgmJHHOyHdXAWGq3Oycm9-F_UKCXibFl_eTQwUllvk130_assertion http://identifiers.org/ncbigene/51099 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/C0268238 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/DGNf59a0ae38fa96e36d4c3d52c5847a289 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/51099 http://rdf.disgenet.org/resource/gda/DGNf59a0ae38fa96e36d4c3d52c5847a289 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0268238 http://rdf.disgenet.org/resource/gda/DGNf59a0ae38fa96e36d4c3d52c5847a289 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP804309.RAFrgmJHHOyHdXAWGq3Oycm9-F_UKCXibFl_eTQwUllvk130_provenance http://rdf.disgenet.org/resource/nanopub/NP804309.RAFrgmJHHOyHdXAWGq3Oycm9-F_UKCXibFl_eTQwUllvk130_assertion http://purl.org/dc/terms/description [Genetic studies were performed to detect mutations in the SLC22A5 for primary carnitine deficiency, PNPLA2 for neutral lipid storage disease with myopathy, ABHD5 for neutral lipid storage disease with ichthyosis, ETFDH for multiple acyl-CoA dehydrogenation deficiency (MADD), and CPT2 for carnitine palmitoyltransferase II deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP804309.RAFrgmJHHOyHdXAWGq3Oycm9-F_UKCXibFl_eTQwUllvk130_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/NP804309.RAFrgmJHHOyHdXAWGq3Oycm9-F_UKCXibFl_eTQwUllvk130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20370797 http://rdf.disgenet.org/resource/nanopub/NP804309.RAFrgmJHHOyHdXAWGq3Oycm9-F_UKCXibFl_eTQwUllvk130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP804309.RAFrgmJHHOyHdXAWGq3Oycm9-F_UKCXibFl_eTQwUllvk130_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/NP804309.RAFrgmJHHOyHdXAWGq3Oycm9-F_UKCXibFl_eTQwUllvk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP804309.RAFrgmJHHOyHdXAWGq3Oycm9-F_UKCXibFl_eTQwUllvk http://purl.org/dc/terms/created 2016-05-13T12:47:49+02:00 http://rdf.disgenet.org/resource/nanopub/NP804309.RAFrgmJHHOyHdXAWGq3Oycm9-F_UKCXibFl_eTQwUllvk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP804309.RAFrgmJHHOyHdXAWGq3Oycm9-F_UKCXibFl_eTQwUllvk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP804309.RAFrgmJHHOyHdXAWGq3Oycm9-F_UKCXibFl_eTQwUllvk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP804309.RAFrgmJHHOyHdXAWGq3Oycm9-F_UKCXibFl_eTQwUllvk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP804309.RAFrgmJHHOyHdXAWGq3Oycm9-F_UKCXibFl_eTQwUllvk http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP804309.RAFrgmJHHOyHdXAWGq3Oycm9-F_UKCXibFl_eTQwUllvk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP804309.RAFrgmJHHOyHdXAWGq3Oycm9-F_UKCXibFl_eTQwUllvk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP804309.RAFrgmJHHOyHdXAWGq3Oycm9-F_UKCXibFl_eTQwUllvk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP804309.RAFrgmJHHOyHdXAWGq3Oycm9-F_UKCXibFl_eTQwUllvk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP804309.RAFrgmJHHOyHdXAWGq3Oycm9-F_UKCXibFl_eTQwUllvk http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP804309.RAFrgmJHHOyHdXAWGq3Oycm9-F_UKCXibFl_eTQwUllvk 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