@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:NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_head { this: np:hasAssertion dgn-np:NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_assertion; np:hasProvenance dgn-np:NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_provenance; np:hasPublicationInfo dgn-np:NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_publicationInfo; a np:Nanopublication . dgn-np:NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_assertion a np:Assertion . dgn-np:NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_provenance a np:Provenance . dgn-np:NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_publicationInfo a np:PublicationInfo . } dgn-np:NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_assertion { miriam-gene:57728 a ncit:C16612 . lld:C0403553 a ncit:C7057 . dgn-gda:DGNfbd4a20147ced321cf3218b9511b0d96 sio:SIO_000628 miriam-gene:57728, lld:C0403553; a sio:SIO_001121 . } dgn-np:NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_provenance { dgn-np:NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_assertion dcterms:description "[Mutations in WDR19 encoding the intraflagellar transport component IFT144 have recently been described in single families with the clinically overlapping skeletal ciliopathies Jeune and Sensenbrenner syndromes, combined or isolated nephronophthisis (NPHP) and retinitis pigmentosa (RP) (Senior-Loken syndrome).]. 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:24504730; 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:NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_publicationInfo { this: dcterms:created "2015-08-25T14:47:10+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" . }