http://rdf.disgenet.org/resource/nanopub/NP1112134.RAeVMF0ezPcukCOlsTVcuHakG6kt8IwpRPszlk-RocH_A130_head http://rdf.disgenet.org/resource/nanopub/NP1112134.RAeVMF0ezPcukCOlsTVcuHakG6kt8IwpRPszlk-RocH_A http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1112134.RAeVMF0ezPcukCOlsTVcuHakG6kt8IwpRPszlk-RocH_A130_assertion http://rdf.disgenet.org/resource/nanopub/NP1112134.RAeVMF0ezPcukCOlsTVcuHakG6kt8IwpRPszlk-RocH_A http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1112134.RAeVMF0ezPcukCOlsTVcuHakG6kt8IwpRPszlk-RocH_A130_provenance http://rdf.disgenet.org/resource/nanopub/NP1112134.RAeVMF0ezPcukCOlsTVcuHakG6kt8IwpRPszlk-RocH_A http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1112134.RAeVMF0ezPcukCOlsTVcuHakG6kt8IwpRPszlk-RocH_A130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1112134.RAeVMF0ezPcukCOlsTVcuHakG6kt8IwpRPszlk-RocH_A http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1112134.RAeVMF0ezPcukCOlsTVcuHakG6kt8IwpRPszlk-RocH_A130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1112134.RAeVMF0ezPcukCOlsTVcuHakG6kt8IwpRPszlk-RocH_A130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1112134.RAeVMF0ezPcukCOlsTVcuHakG6kt8IwpRPszlk-RocH_A130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1112134.RAeVMF0ezPcukCOlsTVcuHakG6kt8IwpRPszlk-RocH_A130_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/resource/gda/DGNf929bf10b96dc4918f71d6e8c404bca4 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/9968 http://rdf.disgenet.org/resource/gda/DGNf929bf10b96dc4918f71d6e8c404bca4 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0029132 http://rdf.disgenet.org/resource/gda/DGNf929bf10b96dc4918f71d6e8c404bca4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1112134.RAeVMF0ezPcukCOlsTVcuHakG6kt8IwpRPszlk-RocH_A130_provenance http://rdf.disgenet.org/resource/nanopub/NP1112134.RAeVMF0ezPcukCOlsTVcuHakG6kt8IwpRPszlk-RocH_A130_assertion http://purl.org/dc/terms/description [This study describes a clinical series of 40 patients from Saudi Arabia with a positive DOA phenotype (i.e., decreased visual acuity during the first 2 decades of life, temporal or global optic disc pallor, and absence of other neurological or ophthalmological diseases that could explain the optic neuropathy) who underwent molecular genetic testing for OPA1 (and, in some cases, for OPA3).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1112134.RAeVMF0ezPcukCOlsTVcuHakG6kt8IwpRPszlk-RocH_A130_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/NP1112134.RAeVMF0ezPcukCOlsTVcuHakG6kt8IwpRPszlk-RocH_A130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/24051421 http://rdf.disgenet.org/resource/nanopub/NP1112134.RAeVMF0ezPcukCOlsTVcuHakG6kt8IwpRPszlk-RocH_A130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1112134.RAeVMF0ezPcukCOlsTVcuHakG6kt8IwpRPszlk-RocH_A130_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/NP1112134.RAeVMF0ezPcukCOlsTVcuHakG6kt8IwpRPszlk-RocH_A130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1112134.RAeVMF0ezPcukCOlsTVcuHakG6kt8IwpRPszlk-RocH_A http://purl.org/dc/terms/created 2016-05-13T12:50:10+02:00 http://rdf.disgenet.org/resource/nanopub/NP1112134.RAeVMF0ezPcukCOlsTVcuHakG6kt8IwpRPszlk-RocH_A http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1112134.RAeVMF0ezPcukCOlsTVcuHakG6kt8IwpRPszlk-RocH_A http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1112134.RAeVMF0ezPcukCOlsTVcuHakG6kt8IwpRPszlk-RocH_A http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1112134.RAeVMF0ezPcukCOlsTVcuHakG6kt8IwpRPszlk-RocH_A http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1112134.RAeVMF0ezPcukCOlsTVcuHakG6kt8IwpRPszlk-RocH_A http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1112134.RAeVMF0ezPcukCOlsTVcuHakG6kt8IwpRPszlk-RocH_A http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1112134.RAeVMF0ezPcukCOlsTVcuHakG6kt8IwpRPszlk-RocH_A http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1112134.RAeVMF0ezPcukCOlsTVcuHakG6kt8IwpRPszlk-RocH_A http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1112134.RAeVMF0ezPcukCOlsTVcuHakG6kt8IwpRPszlk-RocH_A http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1112134.RAeVMF0ezPcukCOlsTVcuHakG6kt8IwpRPszlk-RocH_A http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1112134.RAeVMF0ezPcukCOlsTVcuHakG6kt8IwpRPszlk-RocH_A 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