http://rdf.disgenet.org/resource/nanopub/NP209796.RARAI1qxr8GICQ_oEVu5aQMg5l9tXIuZGQ3ONCektDmYM130_head http://rdf.disgenet.org/resource/nanopub/NP209796.RARAI1qxr8GICQ_oEVu5aQMg5l9tXIuZGQ3ONCektDmYM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP209796.RARAI1qxr8GICQ_oEVu5aQMg5l9tXIuZGQ3ONCektDmYM130_assertion http://rdf.disgenet.org/resource/nanopub/NP209796.RARAI1qxr8GICQ_oEVu5aQMg5l9tXIuZGQ3ONCektDmYM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP209796.RARAI1qxr8GICQ_oEVu5aQMg5l9tXIuZGQ3ONCektDmYM130_provenance http://rdf.disgenet.org/resource/nanopub/NP209796.RARAI1qxr8GICQ_oEVu5aQMg5l9tXIuZGQ3ONCektDmYM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP209796.RARAI1qxr8GICQ_oEVu5aQMg5l9tXIuZGQ3ONCektDmYM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP209796.RARAI1qxr8GICQ_oEVu5aQMg5l9tXIuZGQ3ONCektDmYM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP209796.RARAI1qxr8GICQ_oEVu5aQMg5l9tXIuZGQ3ONCektDmYM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP209796.RARAI1qxr8GICQ_oEVu5aQMg5l9tXIuZGQ3ONCektDmYM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP209796.RARAI1qxr8GICQ_oEVu5aQMg5l9tXIuZGQ3ONCektDmYM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP209796.RARAI1qxr8GICQ_oEVu5aQMg5l9tXIuZGQ3ONCektDmYM130_assertion http://identifiers.org/ncbigene/4976 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/C0338508 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/DGNe79aee100836949c4ffad7b3e88b8964 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4976 http://rdf.disgenet.org/resource/gda/DGNe79aee100836949c4ffad7b3e88b8964 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0338508 http://rdf.disgenet.org/resource/gda/DGNe79aee100836949c4ffad7b3e88b8964 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP209796.RARAI1qxr8GICQ_oEVu5aQMg5l9tXIuZGQ3ONCektDmYM130_provenance http://rdf.disgenet.org/resource/nanopub/NP209796.RARAI1qxr8GICQ_oEVu5aQMg5l9tXIuZGQ3ONCektDmYM130_assertion http://purl.org/dc/terms/description [Our findings show that gross genomic aberrations at the OPA1 gene locus are frequent in Autosomal dominant optic atrophy and substantially contribute to the spectrum and prevalence of OPA1 mutations in ADOA patients]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP209796.RARAI1qxr8GICQ_oEVu5aQMg5l9tXIuZGQ3ONCektDmYM130_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/NP209796.RARAI1qxr8GICQ_oEVu5aQMg5l9tXIuZGQ3ONCektDmYM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19181907 http://rdf.disgenet.org/resource/nanopub/NP209796.RARAI1qxr8GICQ_oEVu5aQMg5l9tXIuZGQ3ONCektDmYM130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/lhgdn-20090331 http://rdf.disgenet.org/resource/nanopub/NP209796.RARAI1qxr8GICQ_oEVu5aQMg5l9tXIuZGQ3ONCektDmYM130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/lhgdn-20090331 http://purl.org/pav/importedOn 2009-03-31 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/NP209796.RARAI1qxr8GICQ_oEVu5aQMg5l9tXIuZGQ3ONCektDmYM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP209796.RARAI1qxr8GICQ_oEVu5aQMg5l9tXIuZGQ3ONCektDmYM http://purl.org/dc/terms/created 2015-08-25T14:39:39+02:00 http://rdf.disgenet.org/resource/nanopub/NP209796.RARAI1qxr8GICQ_oEVu5aQMg5l9tXIuZGQ3ONCektDmYM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP209796.RARAI1qxr8GICQ_oEVu5aQMg5l9tXIuZGQ3ONCektDmYM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP209796.RARAI1qxr8GICQ_oEVu5aQMg5l9tXIuZGQ3ONCektDmYM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP209796.RARAI1qxr8GICQ_oEVu5aQMg5l9tXIuZGQ3ONCektDmYM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP209796.RARAI1qxr8GICQ_oEVu5aQMg5l9tXIuZGQ3ONCektDmYM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP209796.RARAI1qxr8GICQ_oEVu5aQMg5l9tXIuZGQ3ONCektDmYM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP209796.RARAI1qxr8GICQ_oEVu5aQMg5l9tXIuZGQ3ONCektDmYM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP209796.RARAI1qxr8GICQ_oEVu5aQMg5l9tXIuZGQ3ONCektDmYM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP209796.RARAI1qxr8GICQ_oEVu5aQMg5l9tXIuZGQ3ONCektDmYM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP209796.RARAI1qxr8GICQ_oEVu5aQMg5l9tXIuZGQ3ONCektDmYM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP209796.RARAI1qxr8GICQ_oEVu5aQMg5l9tXIuZGQ3ONCektDmYM 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