http://rdf.disgenet.org/resource/nanopub/NP1339066.RAEFCZMWyhwXgeIBnyg4jtnX4Zt8AvbVHLUN12eGSHMdo130_head http://rdf.disgenet.org/resource/nanopub/NP1339066.RAEFCZMWyhwXgeIBnyg4jtnX4Zt8AvbVHLUN12eGSHMdo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1339066.RAEFCZMWyhwXgeIBnyg4jtnX4Zt8AvbVHLUN12eGSHMdo130_assertion http://rdf.disgenet.org/resource/nanopub/NP1339066.RAEFCZMWyhwXgeIBnyg4jtnX4Zt8AvbVHLUN12eGSHMdo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1339066.RAEFCZMWyhwXgeIBnyg4jtnX4Zt8AvbVHLUN12eGSHMdo130_provenance http://rdf.disgenet.org/resource/nanopub/NP1339066.RAEFCZMWyhwXgeIBnyg4jtnX4Zt8AvbVHLUN12eGSHMdo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1339066.RAEFCZMWyhwXgeIBnyg4jtnX4Zt8AvbVHLUN12eGSHMdo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1339066.RAEFCZMWyhwXgeIBnyg4jtnX4Zt8AvbVHLUN12eGSHMdo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1339066.RAEFCZMWyhwXgeIBnyg4jtnX4Zt8AvbVHLUN12eGSHMdo130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1339066.RAEFCZMWyhwXgeIBnyg4jtnX4Zt8AvbVHLUN12eGSHMdo130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1339066.RAEFCZMWyhwXgeIBnyg4jtnX4Zt8AvbVHLUN12eGSHMdo130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1339066.RAEFCZMWyhwXgeIBnyg4jtnX4Zt8AvbVHLUN12eGSHMdo130_assertion http://identifiers.org/ncbigene/4538 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/C0917796 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/DGN95356c3530801bba3ef0968af6449515 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4538 http://rdf.disgenet.org/resource/gda/DGN95356c3530801bba3ef0968af6449515 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0917796 http://rdf.disgenet.org/resource/gda/DGN95356c3530801bba3ef0968af6449515 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1339066.RAEFCZMWyhwXgeIBnyg4jtnX4Zt8AvbVHLUN12eGSHMdo130_provenance http://rdf.disgenet.org/resource/nanopub/NP1339066.RAEFCZMWyhwXgeIBnyg4jtnX4Zt8AvbVHLUN12eGSHMdo130_assertion http://purl.org/dc/terms/description [However, RRF and lactic acidosis are absent in Leber hereditary optic neuropathy (LHON) (one point mutation affecting ND4 gene, two point mutations affecting ND1 gene, and one point mutation affecting the apocytochrome b subunit of complex III), and the condition associated with maternally inherited sensory neuropathy (N), ataxia (A), retinitis pigmentosa (RP), developmental delay, dementia, seizures, and limb weakness (NARP) (point mutation affecting ATPase subunit 6 gene).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1339066.RAEFCZMWyhwXgeIBnyg4jtnX4Zt8AvbVHLUN12eGSHMdo130_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/NP1339066.RAEFCZMWyhwXgeIBnyg4jtnX4Zt8AvbVHLUN12eGSHMdo130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/8338207 http://rdf.disgenet.org/resource/nanopub/NP1339066.RAEFCZMWyhwXgeIBnyg4jtnX4Zt8AvbVHLUN12eGSHMdo130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1339066.RAEFCZMWyhwXgeIBnyg4jtnX4Zt8AvbVHLUN12eGSHMdo130_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/NP1339066.RAEFCZMWyhwXgeIBnyg4jtnX4Zt8AvbVHLUN12eGSHMdo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1339066.RAEFCZMWyhwXgeIBnyg4jtnX4Zt8AvbVHLUN12eGSHMdo http://purl.org/dc/terms/created 2016-05-13T12:51:53+02:00 http://rdf.disgenet.org/resource/nanopub/NP1339066.RAEFCZMWyhwXgeIBnyg4jtnX4Zt8AvbVHLUN12eGSHMdo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1339066.RAEFCZMWyhwXgeIBnyg4jtnX4Zt8AvbVHLUN12eGSHMdo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1339066.RAEFCZMWyhwXgeIBnyg4jtnX4Zt8AvbVHLUN12eGSHMdo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1339066.RAEFCZMWyhwXgeIBnyg4jtnX4Zt8AvbVHLUN12eGSHMdo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1339066.RAEFCZMWyhwXgeIBnyg4jtnX4Zt8AvbVHLUN12eGSHMdo http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1339066.RAEFCZMWyhwXgeIBnyg4jtnX4Zt8AvbVHLUN12eGSHMdo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1339066.RAEFCZMWyhwXgeIBnyg4jtnX4Zt8AvbVHLUN12eGSHMdo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1339066.RAEFCZMWyhwXgeIBnyg4jtnX4Zt8AvbVHLUN12eGSHMdo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1339066.RAEFCZMWyhwXgeIBnyg4jtnX4Zt8AvbVHLUN12eGSHMdo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1339066.RAEFCZMWyhwXgeIBnyg4jtnX4Zt8AvbVHLUN12eGSHMdo http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1339066.RAEFCZMWyhwXgeIBnyg4jtnX4Zt8AvbVHLUN12eGSHMdo 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