@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:NP176415.RAmp6aW0-LdqvKGoVublah4VGw58URJJ_SlJNS7tL1ANo130_head { this: np:hasAssertion dgn-np:NP176415.RAmp6aW0-LdqvKGoVublah4VGw58URJJ_SlJNS7tL1ANo130_assertion; np:hasProvenance dgn-np:NP176415.RAmp6aW0-LdqvKGoVublah4VGw58URJJ_SlJNS7tL1ANo130_provenance; np:hasPublicationInfo dgn-np:NP176415.RAmp6aW0-LdqvKGoVublah4VGw58URJJ_SlJNS7tL1ANo130_publicationInfo; a np:Nanopublication . dgn-np:NP176415.RAmp6aW0-LdqvKGoVublah4VGw58URJJ_SlJNS7tL1ANo130_assertion a np:Assertion . dgn-np:NP176415.RAmp6aW0-LdqvKGoVublah4VGw58URJJ_SlJNS7tL1ANo130_provenance a np:Provenance . dgn-np:NP176415.RAmp6aW0-LdqvKGoVublah4VGw58URJJ_SlJNS7tL1ANo130_publicationInfo a np:PublicationInfo . } dgn-np:NP176415.RAmp6aW0-LdqvKGoVublah4VGw58URJJ_SlJNS7tL1ANo130_assertion { miriam-gene:25865 a ncit:C16612 . lld:C2316810 a ncit:C7057 . dgn-gda:DGN912a043bad5f43f70c24fa0dc6520244 sio:SIO_000628 miriam-gene:25865, lld:C2316810; a sio:SIO_001121 . } dgn-np:NP176415.RAmp6aW0-LdqvKGoVublah4VGw58URJJ_SlJNS7tL1ANo130_provenance { dgn-np:NP176415.RAmp6aW0-LdqvKGoVublah4VGw58URJJ_SlJNS7tL1ANo130_assertion dcterms:description "[A grandmother with the PKD1 gene mutation in mosaicism (p.Val1105ArgfsX4) and with mild clinical course of ADPKD (end stage renal failure at the age of 77) seemed to have ADPKD because of PKD2 gene mutation.]. 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:23496908; 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:NP176415.RAmp6aW0-LdqvKGoVublah4VGw58URJJ_SlJNS7tL1ANo130_publicationInfo { this: dcterms:created "2014-10-02T12:33:35+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" . }