http://rdf.disgenet.org/nanopublications.trig#NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o130_head http://rdf.disgenet.org/nanopublications.trig#NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o130_assertion http://rdf.disgenet.org/nanopublications.trig#NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o130_provenance http://rdf.disgenet.org/nanopublications.trig#NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o130_assertion http://identifiers.org/ncbigene/4566 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/C0085584 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#DGN419ef0e5a7a10c5b7b71b0511c007ba0 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4566 http://rdf.disgenet.org/gene-disease-association.ttl#DGN419ef0e5a7a10c5b7b71b0511c007ba0 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0085584 http://rdf.disgenet.org/gene-disease-association.ttl#DGN419ef0e5a7a10c5b7b71b0511c007ba0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o130_provenance http://rdf.disgenet.org/nanopublications.trig#NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o130_assertion http://purl.org/dc/terms/description [While 10 probands had clinical features consistent with the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), usually associated with this mutation, 12 probands had other phenotypes including other encephalopathies, chronic progressive external ophthalmoplegia (CPEO), myoclonic epilepsy and ragged red fibres (MERRF), myopathy alone and diabetes and deafness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o130_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#NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/7600089 http://rdf.disgenet.org/nanopublications.trig#NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o130_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#NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o130_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#NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o http://purl.org/dc/terms/created 2014-10-02T12:38:39+02:00 http://rdf.disgenet.org/nanopublications.trig#NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP661233.RA0AQfLK9d_bUbrqeYtqYysLPGwuvlyr3fKc3Kqd4PM_o 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