http://rdf.disgenet.org/resource/nanopub/NP822024.RADGc-9J2falKbA1PAJ6pdgOb_QOLN7T7Mbl0VIMRv1to130_head
http://rdf.disgenet.org/resource/nanopub/NP822024.RADGc-9J2falKbA1PAJ6pdgOb_QOLN7T7Mbl0VIMRv1to
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP822024.RADGc-9J2falKbA1PAJ6pdgOb_QOLN7T7Mbl0VIMRv1to130_assertion
http://rdf.disgenet.org/resource/nanopub/NP822024.RADGc-9J2falKbA1PAJ6pdgOb_QOLN7T7Mbl0VIMRv1to
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP822024.RADGc-9J2falKbA1PAJ6pdgOb_QOLN7T7Mbl0VIMRv1to130_provenance
http://rdf.disgenet.org/resource/nanopub/NP822024.RADGc-9J2falKbA1PAJ6pdgOb_QOLN7T7Mbl0VIMRv1to
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP822024.RADGc-9J2falKbA1PAJ6pdgOb_QOLN7T7Mbl0VIMRv1to130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP822024.RADGc-9J2falKbA1PAJ6pdgOb_QOLN7T7Mbl0VIMRv1to
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP822024.RADGc-9J2falKbA1PAJ6pdgOb_QOLN7T7Mbl0VIMRv1to130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP822024.RADGc-9J2falKbA1PAJ6pdgOb_QOLN7T7Mbl0VIMRv1to130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP822024.RADGc-9J2falKbA1PAJ6pdgOb_QOLN7T7Mbl0VIMRv1to130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP822024.RADGc-9J2falKbA1PAJ6pdgOb_QOLN7T7Mbl0VIMRv1to130_assertion
http://identifiers.org/ncbigene/9377
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/C0162670
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/DGN67bd6c16ba3f64f422ff635859c6134c
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/9377
http://rdf.disgenet.org/resource/gda/DGN67bd6c16ba3f64f422ff635859c6134c
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0162670
http://rdf.disgenet.org/resource/gda/DGN67bd6c16ba3f64f422ff635859c6134c
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP822024.RADGc-9J2falKbA1PAJ6pdgOb_QOLN7T7Mbl0VIMRv1to130_provenance
http://rdf.disgenet.org/resource/nanopub/NP822024.RADGc-9J2falKbA1PAJ6pdgOb_QOLN7T7Mbl0VIMRv1to130_assertion
http://purl.org/dc/terms/description
[Apart from its much slower progression, these patients' phenotype closely resembled that of pediatric cases including early onset, absence of CNS symptoms, generalized muscle weakness predominating on axial and proximal muscles but affecting facial, ocular, and respiratory muscles, typical mitochondrial myopathy with a mosaic pattern of COX-negative and ragged-red fibers, combined mtDNA-dependent respiratory complexes deficiency and mtDNA depletion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP822024.RADGc-9J2falKbA1PAJ6pdgOb_QOLN7T7Mbl0VIMRv1to130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP822024.RADGc-9J2falKbA1PAJ6pdgOb_QOLN7T7Mbl0VIMRv1to130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/22345218
http://rdf.disgenet.org/resource/nanopub/NP822024.RADGc-9J2falKbA1PAJ6pdgOb_QOLN7T7Mbl0VIMRv1to130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://rdf.disgenet.org/resource/nanopub/NP822024.RADGc-9J2falKbA1PAJ6pdgOb_QOLN7T7Mbl0VIMRv1to130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://purl.org/pav/importedOn
2015-02-27
http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP822024.RADGc-9J2falKbA1PAJ6pdgOb_QOLN7T7Mbl0VIMRv1to130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP822024.RADGc-9J2falKbA1PAJ6pdgOb_QOLN7T7Mbl0VIMRv1to
http://purl.org/dc/terms/created
2015-08-25T14:45:58+02:00
http://rdf.disgenet.org/resource/nanopub/NP822024.RADGc-9J2falKbA1PAJ6pdgOb_QOLN7T7Mbl0VIMRv1to
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP822024.RADGc-9J2falKbA1PAJ6pdgOb_QOLN7T7Mbl0VIMRv1to
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v3.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP822024.RADGc-9J2falKbA1PAJ6pdgOb_QOLN7T7Mbl0VIMRv1to
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP822024.RADGc-9J2falKbA1PAJ6pdgOb_QOLN7T7Mbl0VIMRv1to
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP822024.RADGc-9J2falKbA1PAJ6pdgOb_QOLN7T7Mbl0VIMRv1to
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP822024.RADGc-9J2falKbA1PAJ6pdgOb_QOLN7T7Mbl0VIMRv1to
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP822024.RADGc-9J2falKbA1PAJ6pdgOb_QOLN7T7Mbl0VIMRv1to
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP822024.RADGc-9J2falKbA1PAJ6pdgOb_QOLN7T7Mbl0VIMRv1to
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP822024.RADGc-9J2falKbA1PAJ6pdgOb_QOLN7T7Mbl0VIMRv1to
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP822024.RADGc-9J2falKbA1PAJ6pdgOb_QOLN7T7Mbl0VIMRv1to
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP822024.RADGc-9J2falKbA1PAJ6pdgOb_QOLN7T7Mbl0VIMRv1to
http://purl.org/pav/version
v3.0.0.0
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v3.0.0