http://rdf.disgenet.org/resource/nanopub/NP368822.RAHRlTGZDqcEWGVHjMmEkmRJaDKVf9JfjIDSkLVs8cPF0#head http://rdf.disgenet.org/resource/nanopub/NP368822.RAHRlTGZDqcEWGVHjMmEkmRJaDKVf9JfjIDSkLVs8cPF0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP368822.RAHRlTGZDqcEWGVHjMmEkmRJaDKVf9JfjIDSkLVs8cPF0#assertion http://rdf.disgenet.org/resource/nanopub/NP368822.RAHRlTGZDqcEWGVHjMmEkmRJaDKVf9JfjIDSkLVs8cPF0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP368822.RAHRlTGZDqcEWGVHjMmEkmRJaDKVf9JfjIDSkLVs8cPF0#provenance http://rdf.disgenet.org/resource/nanopub/NP368822.RAHRlTGZDqcEWGVHjMmEkmRJaDKVf9JfjIDSkLVs8cPF0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP368822.RAHRlTGZDqcEWGVHjMmEkmRJaDKVf9JfjIDSkLVs8cPF0#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP368822.RAHRlTGZDqcEWGVHjMmEkmRJaDKVf9JfjIDSkLVs8cPF0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP368822.RAHRlTGZDqcEWGVHjMmEkmRJaDKVf9JfjIDSkLVs8cPF0#assertion http://rdf.disgenet.org/resource/gda/DGNd30d10bb440a0d16520c5c198639ec1d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2108 http://rdf.disgenet.org/resource/gda/DGNd30d10bb440a0d16520c5c198639ec1d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0006111 http://rdf.disgenet.org/resource/gda/DGNd30d10bb440a0d16520c5c198639ec1d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP368822.RAHRlTGZDqcEWGVHjMmEkmRJaDKVf9JfjIDSkLVs8cPF0#provenance http://rdf.disgenet.org/resource/nanopub/NP368822.RAHRlTGZDqcEWGVHjMmEkmRJaDKVf9JfjIDSkLVs8cPF0#assertion http://purl.org/dc/terms/description [To investigate to what extent ETHE1 is responsible for EE, we analysed this gene in 29 patients with typical EE and in 11 patients presenting with early onset progressive encephalopathy with ethylmalonic aciduria (non-EE EMA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP368822.RAHRlTGZDqcEWGVHjMmEkmRJaDKVf9JfjIDSkLVs8cPF0#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/NP368822.RAHRlTGZDqcEWGVHjMmEkmRJaDKVf9JfjIDSkLVs8cPF0#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16183799 http://rdf.disgenet.org/resource/nanopub/NP368822.RAHRlTGZDqcEWGVHjMmEkmRJaDKVf9JfjIDSkLVs8cPF0#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP368822.RAHRlTGZDqcEWGVHjMmEkmRJaDKVf9JfjIDSkLVs8cPF0#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/NP368822.RAHRlTGZDqcEWGVHjMmEkmRJaDKVf9JfjIDSkLVs8cPF0#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP368822.RAHRlTGZDqcEWGVHjMmEkmRJaDKVf9JfjIDSkLVs8cPF0 http://purl.org/dc/terms/created 2017-10-17T13:12:32+02:00 http://rdf.disgenet.org/resource/nanopub/NP368822.RAHRlTGZDqcEWGVHjMmEkmRJaDKVf9JfjIDSkLVs8cPF0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP368822.RAHRlTGZDqcEWGVHjMmEkmRJaDKVf9JfjIDSkLVs8cPF0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP368822.RAHRlTGZDqcEWGVHjMmEkmRJaDKVf9JfjIDSkLVs8cPF0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP368822.RAHRlTGZDqcEWGVHjMmEkmRJaDKVf9JfjIDSkLVs8cPF0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP368822.RAHRlTGZDqcEWGVHjMmEkmRJaDKVf9JfjIDSkLVs8cPF0 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP368822.RAHRlTGZDqcEWGVHjMmEkmRJaDKVf9JfjIDSkLVs8cPF0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP368822.RAHRlTGZDqcEWGVHjMmEkmRJaDKVf9JfjIDSkLVs8cPF0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP368822.RAHRlTGZDqcEWGVHjMmEkmRJaDKVf9JfjIDSkLVs8cPF0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP368822.RAHRlTGZDqcEWGVHjMmEkmRJaDKVf9JfjIDSkLVs8cPF0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP368822.RAHRlTGZDqcEWGVHjMmEkmRJaDKVf9JfjIDSkLVs8cPF0 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP368822.RAHRlTGZDqcEWGVHjMmEkmRJaDKVf9JfjIDSkLVs8cPF0 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