http://rdf.disgenet.org/resource/nanopub/NP959312.RAvYlXXjIJ-myZCYNxW7pVwnirv2_-wZTXtzJwQENPnGI#head http://rdf.disgenet.org/resource/nanopub/NP959312.RAvYlXXjIJ-myZCYNxW7pVwnirv2_-wZTXtzJwQENPnGI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP959312.RAvYlXXjIJ-myZCYNxW7pVwnirv2_-wZTXtzJwQENPnGI#assertion http://rdf.disgenet.org/resource/nanopub/NP959312.RAvYlXXjIJ-myZCYNxW7pVwnirv2_-wZTXtzJwQENPnGI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP959312.RAvYlXXjIJ-myZCYNxW7pVwnirv2_-wZTXtzJwQENPnGI#provenance http://rdf.disgenet.org/resource/nanopub/NP959312.RAvYlXXjIJ-myZCYNxW7pVwnirv2_-wZTXtzJwQENPnGI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP959312.RAvYlXXjIJ-myZCYNxW7pVwnirv2_-wZTXtzJwQENPnGI#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP959312.RAvYlXXjIJ-myZCYNxW7pVwnirv2_-wZTXtzJwQENPnGI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP959312.RAvYlXXjIJ-myZCYNxW7pVwnirv2_-wZTXtzJwQENPnGI#assertion http://rdf.disgenet.org/resource/gda/DGNe5a00c89d3021930903022cfe2613c2d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6584 http://rdf.disgenet.org/resource/gda/DGNe5a00c89d3021930903022cfe2613c2d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0342788 http://rdf.disgenet.org/resource/gda/DGNe5a00c89d3021930903022cfe2613c2d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP959312.RAvYlXXjIJ-myZCYNxW7pVwnirv2_-wZTXtzJwQENPnGI#provenance http://rdf.disgenet.org/resource/nanopub/NP959312.RAvYlXXjIJ-myZCYNxW7pVwnirv2_-wZTXtzJwQENPnGI#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/NP959312.RAvYlXXjIJ-myZCYNxW7pVwnirv2_-wZTXtzJwQENPnGI#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP959312.RAvYlXXjIJ-myZCYNxW7pVwnirv2_-wZTXtzJwQENPnGI#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20370797 http://rdf.disgenet.org/resource/nanopub/NP959312.RAvYlXXjIJ-myZCYNxW7pVwnirv2_-wZTXtzJwQENPnGI#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP959312.RAvYlXXjIJ-myZCYNxW7pVwnirv2_-wZTXtzJwQENPnGI#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP959312.RAvYlXXjIJ-myZCYNxW7pVwnirv2_-wZTXtzJwQENPnGI#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP959312.RAvYlXXjIJ-myZCYNxW7pVwnirv2_-wZTXtzJwQENPnGI http://purl.org/dc/terms/created 2017-10-17T13:16:18+02:00 http://rdf.disgenet.org/resource/nanopub/NP959312.RAvYlXXjIJ-myZCYNxW7pVwnirv2_-wZTXtzJwQENPnGI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP959312.RAvYlXXjIJ-myZCYNxW7pVwnirv2_-wZTXtzJwQENPnGI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP959312.RAvYlXXjIJ-myZCYNxW7pVwnirv2_-wZTXtzJwQENPnGI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP959312.RAvYlXXjIJ-myZCYNxW7pVwnirv2_-wZTXtzJwQENPnGI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP959312.RAvYlXXjIJ-myZCYNxW7pVwnirv2_-wZTXtzJwQENPnGI http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP959312.RAvYlXXjIJ-myZCYNxW7pVwnirv2_-wZTXtzJwQENPnGI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP959312.RAvYlXXjIJ-myZCYNxW7pVwnirv2_-wZTXtzJwQENPnGI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP959312.RAvYlXXjIJ-myZCYNxW7pVwnirv2_-wZTXtzJwQENPnGI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP959312.RAvYlXXjIJ-myZCYNxW7pVwnirv2_-wZTXtzJwQENPnGI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP959312.RAvYlXXjIJ-myZCYNxW7pVwnirv2_-wZTXtzJwQENPnGI http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP959312.RAvYlXXjIJ-myZCYNxW7pVwnirv2_-wZTXtzJwQENPnGI http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0