http://rdf.disgenet.org/nanopublications.trig#NP584921.RAX_aFVEpWBTHNoM7HDZLrd7fB16L9t8h8R4VXk4pv-dU130_head http://rdf.disgenet.org/nanopublications.trig#NP584921.RAX_aFVEpWBTHNoM7HDZLrd7fB16L9t8h8R4VXk4pv-dU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP584921.RAX_aFVEpWBTHNoM7HDZLrd7fB16L9t8h8R4VXk4pv-dU130_assertion http://rdf.disgenet.org/nanopublications.trig#NP584921.RAX_aFVEpWBTHNoM7HDZLrd7fB16L9t8h8R4VXk4pv-dU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP584921.RAX_aFVEpWBTHNoM7HDZLrd7fB16L9t8h8R4VXk4pv-dU130_provenance http://rdf.disgenet.org/nanopublications.trig#NP584921.RAX_aFVEpWBTHNoM7HDZLrd7fB16L9t8h8R4VXk4pv-dU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP584921.RAX_aFVEpWBTHNoM7HDZLrd7fB16L9t8h8R4VXk4pv-dU130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP584921.RAX_aFVEpWBTHNoM7HDZLrd7fB16L9t8h8R4VXk4pv-dU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP584921.RAX_aFVEpWBTHNoM7HDZLrd7fB16L9t8h8R4VXk4pv-dU130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP584921.RAX_aFVEpWBTHNoM7HDZLrd7fB16L9t8h8R4VXk4pv-dU130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP584921.RAX_aFVEpWBTHNoM7HDZLrd7fB16L9t8h8R4VXk4pv-dU130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP584921.RAX_aFVEpWBTHNoM7HDZLrd7fB16L9t8h8R4VXk4pv-dU130_assertion http://identifiers.org/ncbigene/9968 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/C0029132 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#DGNa37c35babee2d4d0b4208b5c0334bdb6 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/9968 http://rdf.disgenet.org/gene-disease-association.ttl#DGNa37c35babee2d4d0b4208b5c0334bdb6 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0029132 http://rdf.disgenet.org/gene-disease-association.ttl#DGNa37c35babee2d4d0b4208b5c0334bdb6 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP584921.RAX_aFVEpWBTHNoM7HDZLrd7fB16L9t8h8R4VXk4pv-dU130_provenance http://rdf.disgenet.org/nanopublications.trig#NP584921.RAX_aFVEpWBTHNoM7HDZLrd7fB16L9t8h8R4VXk4pv-dU130_assertion http://purl.org/dc/terms/description [The mutation spectrum of the OPA1 gene disclosed marked genetic heterogeneity and the mitochondrial DNA content was found to be lower in autosomal dominant optic neuropathy, which provides direct evidence for a pathogenetic role of mutations of the OPA1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP584921.RAX_aFVEpWBTHNoM7HDZLrd7fB16L9t8h8R4VXk4pv-dU130_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#NP584921.RAX_aFVEpWBTHNoM7HDZLrd7fB16L9t8h8R4VXk4pv-dU130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15781809 http://rdf.disgenet.org/nanopublications.trig#NP584921.RAX_aFVEpWBTHNoM7HDZLrd7fB16L9t8h8R4VXk4pv-dU130_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#NP584921.RAX_aFVEpWBTHNoM7HDZLrd7fB16L9t8h8R4VXk4pv-dU130_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#NP584921.RAX_aFVEpWBTHNoM7HDZLrd7fB16L9t8h8R4VXk4pv-dU130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP584921.RAX_aFVEpWBTHNoM7HDZLrd7fB16L9t8h8R4VXk4pv-dU http://purl.org/dc/terms/created 2014-10-02T12:37:52+02:00 http://rdf.disgenet.org/nanopublications.trig#NP584921.RAX_aFVEpWBTHNoM7HDZLrd7fB16L9t8h8R4VXk4pv-dU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP584921.RAX_aFVEpWBTHNoM7HDZLrd7fB16L9t8h8R4VXk4pv-dU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP584921.RAX_aFVEpWBTHNoM7HDZLrd7fB16L9t8h8R4VXk4pv-dU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP584921.RAX_aFVEpWBTHNoM7HDZLrd7fB16L9t8h8R4VXk4pv-dU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP584921.RAX_aFVEpWBTHNoM7HDZLrd7fB16L9t8h8R4VXk4pv-dU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP584921.RAX_aFVEpWBTHNoM7HDZLrd7fB16L9t8h8R4VXk4pv-dU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP584921.RAX_aFVEpWBTHNoM7HDZLrd7fB16L9t8h8R4VXk4pv-dU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP584921.RAX_aFVEpWBTHNoM7HDZLrd7fB16L9t8h8R4VXk4pv-dU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP584921.RAX_aFVEpWBTHNoM7HDZLrd7fB16L9t8h8R4VXk4pv-dU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP584921.RAX_aFVEpWBTHNoM7HDZLrd7fB16L9t8h8R4VXk4pv-dU http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP584921.RAX_aFVEpWBTHNoM7HDZLrd7fB16L9t8h8R4VXk4pv-dU 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