http://rdf.disgenet.org/resource/nanopub/NP834401.RAOThypkcOElOcrDxmLKenQvY_QvpJX7FZ9U5F5zKIbdg130_head http://rdf.disgenet.org/resource/nanopub/NP834401.RAOThypkcOElOcrDxmLKenQvY_QvpJX7FZ9U5F5zKIbdg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP834401.RAOThypkcOElOcrDxmLKenQvY_QvpJX7FZ9U5F5zKIbdg130_assertion http://rdf.disgenet.org/resource/nanopub/NP834401.RAOThypkcOElOcrDxmLKenQvY_QvpJX7FZ9U5F5zKIbdg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP834401.RAOThypkcOElOcrDxmLKenQvY_QvpJX7FZ9U5F5zKIbdg130_provenance http://rdf.disgenet.org/resource/nanopub/NP834401.RAOThypkcOElOcrDxmLKenQvY_QvpJX7FZ9U5F5zKIbdg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP834401.RAOThypkcOElOcrDxmLKenQvY_QvpJX7FZ9U5F5zKIbdg130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP834401.RAOThypkcOElOcrDxmLKenQvY_QvpJX7FZ9U5F5zKIbdg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP834401.RAOThypkcOElOcrDxmLKenQvY_QvpJX7FZ9U5F5zKIbdg130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP834401.RAOThypkcOElOcrDxmLKenQvY_QvpJX7FZ9U5F5zKIbdg130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP834401.RAOThypkcOElOcrDxmLKenQvY_QvpJX7FZ9U5F5zKIbdg130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP834401.RAOThypkcOElOcrDxmLKenQvY_QvpJX7FZ9U5F5zKIbdg130_assertion http://identifiers.org/ncbigene/10002 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/C0271185 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/DGN2fd6ea20c9a5f1e97d14089203e81ace http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/10002 http://rdf.disgenet.org/resource/gda/DGN2fd6ea20c9a5f1e97d14089203e81ace http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0271185 http://rdf.disgenet.org/resource/gda/DGN2fd6ea20c9a5f1e97d14089203e81ace http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP834401.RAOThypkcOElOcrDxmLKenQvY_QvpJX7FZ9U5F5zKIbdg130_provenance http://rdf.disgenet.org/resource/nanopub/NP834401.RAOThypkcOElOcrDxmLKenQvY_QvpJX7FZ9U5F5zKIbdg130_assertion http://purl.org/dc/terms/description [patient: A 48-year old Jewish Italian male with clinically, functionally, and molecularly confirmed ESCS, attributable to homozygosity for the R311Q mutation in the NR2E3 gene, presented with sudden visual acuity (VA) loss (20/200) and metamorphopsia in the left eye resulting from acute, late-onset, asymmetric macular RS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP834401.RAOThypkcOElOcrDxmLKenQvY_QvpJX7FZ9U5F5zKIbdg130_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/NP834401.RAOThypkcOElOcrDxmLKenQvY_QvpJX7FZ9U5F5zKIbdg130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18835469 http://rdf.disgenet.org/resource/nanopub/NP834401.RAOThypkcOElOcrDxmLKenQvY_QvpJX7FZ9U5F5zKIbdg130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP834401.RAOThypkcOElOcrDxmLKenQvY_QvpJX7FZ9U5F5zKIbdg130_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/NP834401.RAOThypkcOElOcrDxmLKenQvY_QvpJX7FZ9U5F5zKIbdg130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP834401.RAOThypkcOElOcrDxmLKenQvY_QvpJX7FZ9U5F5zKIbdg http://purl.org/dc/terms/created 2015-08-25T14:46:06+02:00 http://rdf.disgenet.org/resource/nanopub/NP834401.RAOThypkcOElOcrDxmLKenQvY_QvpJX7FZ9U5F5zKIbdg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP834401.RAOThypkcOElOcrDxmLKenQvY_QvpJX7FZ9U5F5zKIbdg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP834401.RAOThypkcOElOcrDxmLKenQvY_QvpJX7FZ9U5F5zKIbdg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP834401.RAOThypkcOElOcrDxmLKenQvY_QvpJX7FZ9U5F5zKIbdg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP834401.RAOThypkcOElOcrDxmLKenQvY_QvpJX7FZ9U5F5zKIbdg http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP834401.RAOThypkcOElOcrDxmLKenQvY_QvpJX7FZ9U5F5zKIbdg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP834401.RAOThypkcOElOcrDxmLKenQvY_QvpJX7FZ9U5F5zKIbdg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP834401.RAOThypkcOElOcrDxmLKenQvY_QvpJX7FZ9U5F5zKIbdg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP834401.RAOThypkcOElOcrDxmLKenQvY_QvpJX7FZ9U5F5zKIbdg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP834401.RAOThypkcOElOcrDxmLKenQvY_QvpJX7FZ9U5F5zKIbdg http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP834401.RAOThypkcOElOcrDxmLKenQvY_QvpJX7FZ9U5F5zKIbdg 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