@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:NP222473.RAavEXDG1CzSl-ssWV3mE9JRSAUiMVEbqgcdiem7Wm40M130_head { this: np:hasAssertion dgn-np:NP222473.RAavEXDG1CzSl-ssWV3mE9JRSAUiMVEbqgcdiem7Wm40M130_assertion; np:hasProvenance dgn-np:NP222473.RAavEXDG1CzSl-ssWV3mE9JRSAUiMVEbqgcdiem7Wm40M130_provenance; np:hasPublicationInfo dgn-np:NP222473.RAavEXDG1CzSl-ssWV3mE9JRSAUiMVEbqgcdiem7Wm40M130_publicationInfo; a np:Nanopublication . dgn-np:NP222473.RAavEXDG1CzSl-ssWV3mE9JRSAUiMVEbqgcdiem7Wm40M130_assertion a np:Assertion . dgn-np:NP222473.RAavEXDG1CzSl-ssWV3mE9JRSAUiMVEbqgcdiem7Wm40M130_provenance a np:Provenance . dgn-np:NP222473.RAavEXDG1CzSl-ssWV3mE9JRSAUiMVEbqgcdiem7Wm40M130_publicationInfo a np:PublicationInfo . } dgn-np:NP222473.RAavEXDG1CzSl-ssWV3mE9JRSAUiMVEbqgcdiem7Wm40M130_assertion { miriam-gene:91754 a ncit:C16612 . lld:C0311245 a ncit:C7057 . dgn-gda:DGNad16d560826e32425808be7620af2de1 sio:SIO_000628 miriam-gene:91754, lld:C0311245; a sio:SIO_001121 . } dgn-np:NP222473.RAavEXDG1CzSl-ssWV3mE9JRSAUiMVEbqgcdiem7Wm40M130_provenance { dgn-np:NP222473.RAavEXDG1CzSl-ssWV3mE9JRSAUiMVEbqgcdiem7Wm40M130_assertion dcterms:description "[Our genetic and functional data support the assumption that mutations in NEK8 cause nephronophthisis (NPHP9), adding another link between proteins mutated in cystic kidney disease and their localization to cilia and centrosomes.]. 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:18199800; 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:NP222473.RAavEXDG1CzSl-ssWV3mE9JRSAUiMVEbqgcdiem7Wm40M130_publicationInfo { this: dcterms:created "2014-10-02T12:34:03+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" . }