http://rdf.disgenet.org/resource/nanopub/NP452382.RAz-yuu-QLahlu6rofEuAfN_2qSczQdIr49NCMy6Z5Y-Q130_head http://rdf.disgenet.org/resource/nanopub/NP452382.RAz-yuu-QLahlu6rofEuAfN_2qSczQdIr49NCMy6Z5Y-Q http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP452382.RAz-yuu-QLahlu6rofEuAfN_2qSczQdIr49NCMy6Z5Y-Q130_assertion http://rdf.disgenet.org/resource/nanopub/NP452382.RAz-yuu-QLahlu6rofEuAfN_2qSczQdIr49NCMy6Z5Y-Q http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP452382.RAz-yuu-QLahlu6rofEuAfN_2qSczQdIr49NCMy6Z5Y-Q130_provenance http://rdf.disgenet.org/resource/nanopub/NP452382.RAz-yuu-QLahlu6rofEuAfN_2qSczQdIr49NCMy6Z5Y-Q http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP452382.RAz-yuu-QLahlu6rofEuAfN_2qSczQdIr49NCMy6Z5Y-Q130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP452382.RAz-yuu-QLahlu6rofEuAfN_2qSczQdIr49NCMy6Z5Y-Q http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP452382.RAz-yuu-QLahlu6rofEuAfN_2qSczQdIr49NCMy6Z5Y-Q130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP452382.RAz-yuu-QLahlu6rofEuAfN_2qSczQdIr49NCMy6Z5Y-Q130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP452382.RAz-yuu-QLahlu6rofEuAfN_2qSczQdIr49NCMy6Z5Y-Q130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP452382.RAz-yuu-QLahlu6rofEuAfN_2qSczQdIr49NCMy6Z5Y-Q130_assertion http://identifiers.org/ncbigene/56652 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/C0270921 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/DGN32cecb8fbeb5fdd109cc4e560d6540c7 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/56652 http://rdf.disgenet.org/resource/gda/DGN32cecb8fbeb5fdd109cc4e560d6540c7 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0270921 http://rdf.disgenet.org/resource/gda/DGN32cecb8fbeb5fdd109cc4e560d6540c7 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP452382.RAz-yuu-QLahlu6rofEuAfN_2qSczQdIr49NCMy6Z5Y-Q130_provenance http://rdf.disgenet.org/resource/nanopub/NP452382.RAz-yuu-QLahlu6rofEuAfN_2qSczQdIr49NCMy6Z5Y-Q130_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/NP452382.RAz-yuu-QLahlu6rofEuAfN_2qSczQdIr49NCMy6Z5Y-Q130_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/NP452382.RAz-yuu-QLahlu6rofEuAfN_2qSczQdIr49NCMy6Z5Y-Q130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15258213 http://rdf.disgenet.org/resource/nanopub/NP452382.RAz-yuu-QLahlu6rofEuAfN_2qSczQdIr49NCMy6Z5Y-Q130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP452382.RAz-yuu-QLahlu6rofEuAfN_2qSczQdIr49NCMy6Z5Y-Q130_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/NP452382.RAz-yuu-QLahlu6rofEuAfN_2qSczQdIr49NCMy6Z5Y-Q130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP452382.RAz-yuu-QLahlu6rofEuAfN_2qSczQdIr49NCMy6Z5Y-Q http://purl.org/dc/terms/created 2016-05-13T12:45:10+02:00 http://rdf.disgenet.org/resource/nanopub/NP452382.RAz-yuu-QLahlu6rofEuAfN_2qSczQdIr49NCMy6Z5Y-Q http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP452382.RAz-yuu-QLahlu6rofEuAfN_2qSczQdIr49NCMy6Z5Y-Q http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP452382.RAz-yuu-QLahlu6rofEuAfN_2qSczQdIr49NCMy6Z5Y-Q http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP452382.RAz-yuu-QLahlu6rofEuAfN_2qSczQdIr49NCMy6Z5Y-Q http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP452382.RAz-yuu-QLahlu6rofEuAfN_2qSczQdIr49NCMy6Z5Y-Q http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP452382.RAz-yuu-QLahlu6rofEuAfN_2qSczQdIr49NCMy6Z5Y-Q http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP452382.RAz-yuu-QLahlu6rofEuAfN_2qSczQdIr49NCMy6Z5Y-Q http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP452382.RAz-yuu-QLahlu6rofEuAfN_2qSczQdIr49NCMy6Z5Y-Q http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP452382.RAz-yuu-QLahlu6rofEuAfN_2qSczQdIr49NCMy6Z5Y-Q http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP452382.RAz-yuu-QLahlu6rofEuAfN_2qSczQdIr49NCMy6Z5Y-Q http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP452382.RAz-yuu-QLahlu6rofEuAfN_2qSczQdIr49NCMy6Z5Y-Q 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