@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:NP847464.RADARIoMMD5e58hBzwsnjuU8Ty6votXtLbVU3ER6l7Cys130_head { this: np:hasAssertion dgn-np:NP847464.RADARIoMMD5e58hBzwsnjuU8Ty6votXtLbVU3ER6l7Cys130_assertion; np:hasProvenance dgn-np:NP847464.RADARIoMMD5e58hBzwsnjuU8Ty6votXtLbVU3ER6l7Cys130_provenance; np:hasPublicationInfo dgn-np:NP847464.RADARIoMMD5e58hBzwsnjuU8Ty6votXtLbVU3ER6l7Cys130_publicationInfo; a np:Nanopublication . dgn-np:NP847464.RADARIoMMD5e58hBzwsnjuU8Ty6votXtLbVU3ER6l7Cys130_assertion a np:Assertion . dgn-np:NP847464.RADARIoMMD5e58hBzwsnjuU8Ty6votXtLbVU3ER6l7Cys130_provenance a np:Provenance . dgn-np:NP847464.RADARIoMMD5e58hBzwsnjuU8Ty6votXtLbVU3ER6l7Cys130_publicationInfo a np:PublicationInfo . } dgn-np:NP847464.RADARIoMMD5e58hBzwsnjuU8Ty6votXtLbVU3ER6l7Cys130_assertion { miriam-gene:10569 a ncit:C16612 . lld:C0035334 a ncit:C7057 . dgn-gda:DGN87e0f8aceade67f7b9266dd6c1ce2f24 sio:SIO_000628 miriam-gene:10569, lld:C0035334; a sio:SIO_001121 . } dgn-np:NP847464.RADARIoMMD5e58hBzwsnjuU8Ty6votXtLbVU3ER6l7Cys130_provenance { dgn-np:NP847464.RADARIoMMD5e58hBzwsnjuU8Ty6votXtLbVU3ER6l7Cys130_assertion dcterms:description "[This study was intended to identify mutations in PRPF3, PRPF8, and PRPF31 in 150 Spanish families affected by adRP, to measure the contribution of mutations in these genes to adRP in that population, and to correlate RP phenotype expression with mutations in pre-mRNA splicing-factor genes.]. 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:12714658; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP847464.RADARIoMMD5e58hBzwsnjuU8Ty6votXtLbVU3ER6l7Cys130_publicationInfo { this: dcterms:created "2015-08-25T14:46:14+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }