@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:NP256541.RAhwRol_Y-os5G7LNEjUI9fQOvzkh9z09wCLArLugWbk0130_head { this: np:hasAssertion dgn-np:NP256541.RAhwRol_Y-os5G7LNEjUI9fQOvzkh9z09wCLArLugWbk0130_assertion; np:hasProvenance dgn-np:NP256541.RAhwRol_Y-os5G7LNEjUI9fQOvzkh9z09wCLArLugWbk0130_provenance; np:hasPublicationInfo dgn-np:NP256541.RAhwRol_Y-os5G7LNEjUI9fQOvzkh9z09wCLArLugWbk0130_publicationInfo; a np:Nanopublication . dgn-np:NP256541.RAhwRol_Y-os5G7LNEjUI9fQOvzkh9z09wCLArLugWbk0130_assertion a np:Assertion . dgn-np:NP256541.RAhwRol_Y-os5G7LNEjUI9fQOvzkh9z09wCLArLugWbk0130_provenance a np:Provenance . dgn-np:NP256541.RAhwRol_Y-os5G7LNEjUI9fQOvzkh9z09wCLArLugWbk0130_publicationInfo a np:PublicationInfo . } dgn-np:NP256541.RAhwRol_Y-os5G7LNEjUI9fQOvzkh9z09wCLArLugWbk0130_assertion { miriam-gene:5145 a ncit:C16612 . lld:C0035334 a ncit:C7057 . dgn-gda:DGN6ccac3b9c67b442de39362907912149f sio:SIO_000628 miriam-gene:5145, lld:C0035334; a sio:SIO_001121 . } dgn-np:NP256541.RAhwRol_Y-os5G7LNEjUI9fQOvzkh9z09wCLArLugWbk0130_provenance { dgn-np:NP256541.RAhwRol_Y-os5G7LNEjUI9fQOvzkh9z09wCLArLugWbk0130_assertion dcterms:description "[To determine the mutation spectrum of the PDE6A gene encoding the alpha subunit of rod cyclic guanosine monophosphate (cGMP)phosphodiesterase and the proportion of patients with recessive retinitis pigmentosa (RP) due to mutations in this gene.]. 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:10393062; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP256541.RAhwRol_Y-os5G7LNEjUI9fQOvzkh9z09wCLArLugWbk0130_publicationInfo { this: dcterms:created "2016-05-13T12:43:42+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }