http://rdf.disgenet.org/resource/nanopub/NP1341428.RAe9oLZ8xteqGEilUCjxRRXzG1gITSS0Z1oepQAPzLePY#head http://rdf.disgenet.org/resource/nanopub/NP1341428.RAe9oLZ8xteqGEilUCjxRRXzG1gITSS0Z1oepQAPzLePY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1341428.RAe9oLZ8xteqGEilUCjxRRXzG1gITSS0Z1oepQAPzLePY#assertion http://rdf.disgenet.org/resource/nanopub/NP1341428.RAe9oLZ8xteqGEilUCjxRRXzG1gITSS0Z1oepQAPzLePY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1341428.RAe9oLZ8xteqGEilUCjxRRXzG1gITSS0Z1oepQAPzLePY#provenance http://rdf.disgenet.org/resource/nanopub/NP1341428.RAe9oLZ8xteqGEilUCjxRRXzG1gITSS0Z1oepQAPzLePY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1341428.RAe9oLZ8xteqGEilUCjxRRXzG1gITSS0Z1oepQAPzLePY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1341428.RAe9oLZ8xteqGEilUCjxRRXzG1gITSS0Z1oepQAPzLePY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1341428.RAe9oLZ8xteqGEilUCjxRRXzG1gITSS0Z1oepQAPzLePY#assertion http://rdf.disgenet.org/resource/gda/DGN2a245794177a1ae735b13778051cc2d9 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/56652 http://rdf.disgenet.org/resource/gda/DGN2a245794177a1ae735b13778051cc2d9 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026848 http://rdf.disgenet.org/resource/gda/DGN2a245794177a1ae735b13778051cc2d9 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1341428.RAe9oLZ8xteqGEilUCjxRRXzG1gITSS0Z1oepQAPzLePY#provenance http://rdf.disgenet.org/resource/nanopub/NP1341428.RAe9oLZ8xteqGEilUCjxRRXzG1gITSS0Z1oepQAPzLePY#assertion http://purl.org/dc/terms/description [Index patients in both families presented with PEO and developed other clinical disease manifestations, such as myopathy and cardiomyopathy (patient 1) and axonal neuropathy, diabetes mellitus, hearing loss, and myopathy (patient 2), later in the course of illness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1341428.RAe9oLZ8xteqGEilUCjxRRXzG1gITSS0Z1oepQAPzLePY#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/NP1341428.RAe9oLZ8xteqGEilUCjxRRXzG1gITSS0Z1oepQAPzLePY#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15258213 http://rdf.disgenet.org/resource/nanopub/NP1341428.RAe9oLZ8xteqGEilUCjxRRXzG1gITSS0Z1oepQAPzLePY#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1341428.RAe9oLZ8xteqGEilUCjxRRXzG1gITSS0Z1oepQAPzLePY#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/NP1341428.RAe9oLZ8xteqGEilUCjxRRXzG1gITSS0Z1oepQAPzLePY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1341428.RAe9oLZ8xteqGEilUCjxRRXzG1gITSS0Z1oepQAPzLePY http://purl.org/dc/terms/created 2017-10-17T13:18:42+02:00 http://rdf.disgenet.org/resource/nanopub/NP1341428.RAe9oLZ8xteqGEilUCjxRRXzG1gITSS0Z1oepQAPzLePY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1341428.RAe9oLZ8xteqGEilUCjxRRXzG1gITSS0Z1oepQAPzLePY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1341428.RAe9oLZ8xteqGEilUCjxRRXzG1gITSS0Z1oepQAPzLePY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1341428.RAe9oLZ8xteqGEilUCjxRRXzG1gITSS0Z1oepQAPzLePY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1341428.RAe9oLZ8xteqGEilUCjxRRXzG1gITSS0Z1oepQAPzLePY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1341428.RAe9oLZ8xteqGEilUCjxRRXzG1gITSS0Z1oepQAPzLePY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1341428.RAe9oLZ8xteqGEilUCjxRRXzG1gITSS0Z1oepQAPzLePY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1341428.RAe9oLZ8xteqGEilUCjxRRXzG1gITSS0Z1oepQAPzLePY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1341428.RAe9oLZ8xteqGEilUCjxRRXzG1gITSS0Z1oepQAPzLePY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1341428.RAe9oLZ8xteqGEilUCjxRRXzG1gITSS0Z1oepQAPzLePY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1341428.RAe9oLZ8xteqGEilUCjxRRXzG1gITSS0Z1oepQAPzLePY 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