@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:NP504231.RAa9pxorG62A7jw1gRGBFRECcKtIrdYnS6QmZfdX7oFt0130_head { this: np:hasAssertion dgn-np:NP504231.RAa9pxorG62A7jw1gRGBFRECcKtIrdYnS6QmZfdX7oFt0130_assertion; np:hasProvenance dgn-np:NP504231.RAa9pxorG62A7jw1gRGBFRECcKtIrdYnS6QmZfdX7oFt0130_provenance; np:hasPublicationInfo dgn-np:NP504231.RAa9pxorG62A7jw1gRGBFRECcKtIrdYnS6QmZfdX7oFt0130_publicationInfo; a np:Nanopublication . dgn-np:NP504231.RAa9pxorG62A7jw1gRGBFRECcKtIrdYnS6QmZfdX7oFt0130_assertion a np:Assertion . dgn-np:NP504231.RAa9pxorG62A7jw1gRGBFRECcKtIrdYnS6QmZfdX7oFt0130_provenance a np:Provenance . dgn-np:NP504231.RAa9pxorG62A7jw1gRGBFRECcKtIrdYnS6QmZfdX7oFt0130_publicationInfo a np:PublicationInfo . } dgn-np:NP504231.RAa9pxorG62A7jw1gRGBFRECcKtIrdYnS6QmZfdX7oFt0130_assertion { miriam-gene:6010 a ncit:C16612 . lld:C0035334 a ncit:C7057 . dgn-gda:DGN171c6ea9e33b1f8a243ff6e127510216 sio:SIO_000628 miriam-gene:6010, lld:C0035334; a sio:SIO_001121 . } dgn-np:NP504231.RAa9pxorG62A7jw1gRGBFRECcKtIrdYnS6QmZfdX7oFt0130_provenance { dgn-np:NP504231.RAa9pxorG62A7jw1gRGBFRECcKtIrdYnS6QmZfdX7oFt0130_assertion dcterms:description "[This paper reviews the published histopathologic findings of patients with retinitis pigmentosa (RP) or an allied disease in whom the responsible gene defect was identified, including 10 cases with dominant RP (cases with mutations in RHO, PRPC8, and RP1), three with dominant spinocerebellar ataxia (SCA7), three X-linked RP carrier females (RPGR), two with congenital retinal blindness (AIPL1 and RPE65), two with mitochondrial encephalomyopathy overlap syndrome (MTTL1), and one case each with dominant cone degeneration (GCAP1), X-linked cone degeneration (RCP), enhanced S-cone syndrome (NR2E3), and dominant late-onset retinal degeneration (CTRP5).]. 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:16020312; 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:NP504231.RAa9pxorG62A7jw1gRGBFRECcKtIrdYnS6QmZfdX7oFt0130_publicationInfo { this: dcterms:created "2016-05-13T12:45:33+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" . }