@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP205288.RAQAk5bS_yGu22_ZE8QWfIt5Ma2HBY6wqz_PKQfnvcjZ0130_head { this: np:hasAssertion dgn-np:NP205288.RAQAk5bS_yGu22_ZE8QWfIt5Ma2HBY6wqz_PKQfnvcjZ0130_assertion; np:hasProvenance dgn-np:NP205288.RAQAk5bS_yGu22_ZE8QWfIt5Ma2HBY6wqz_PKQfnvcjZ0130_provenance; np:hasPublicationInfo dgn-np:NP205288.RAQAk5bS_yGu22_ZE8QWfIt5Ma2HBY6wqz_PKQfnvcjZ0130_publicationInfo; a np:Nanopublication . dgn-np:NP205288.RAQAk5bS_yGu22_ZE8QWfIt5Ma2HBY6wqz_PKQfnvcjZ0130_assertion a np:Assertion . dgn-np:NP205288.RAQAk5bS_yGu22_ZE8QWfIt5Ma2HBY6wqz_PKQfnvcjZ0130_provenance a np:Provenance . dgn-np:NP205288.RAQAk5bS_yGu22_ZE8QWfIt5Ma2HBY6wqz_PKQfnvcjZ0130_publicationInfo a np:PublicationInfo . } dgn-np:NP205288.RAQAk5bS_yGu22_ZE8QWfIt5Ma2HBY6wqz_PKQfnvcjZ0130_assertion { miriam-gene:10982 a ncit:C16612 . lld:C0339525 a ncit:C7057 . dgn-gda:DGN625c9c83a9db56e4e4f689122e9f4470 sio:SIO_000628 miriam-gene:10982, lld:C0339525; a sio:SIO_001121 . } dgn-np:NP205288.RAQAk5bS_yGu22_ZE8QWfIt5Ma2HBY6wqz_PKQfnvcjZ0130_provenance { dgn-np:NP205288.RAQAk5bS_yGu22_ZE8QWfIt5Ma2HBY6wqz_PKQfnvcjZ0130_assertion dcterms:description "[To devise an effective method for detecting mutations in 12 genes (CA4, CRX, IMPDH1, NR2E3, RP9, PRPF3, PRPF8, PRPF31, PRPH2, RHO, RP1, and TOPORS) commonly associated with autosomal dominant retinitis pigmentosa (adRP) that account for more than 95% of known mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:23559859; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP205288.RAQAk5bS_yGu22_ZE8QWfIt5Ma2HBY6wqz_PKQfnvcjZ0130_publicationInfo { this: dcterms:created "2014-10-02T12:33:53+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }