@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:NP213202.RAvRw54Htm4wtL8Dkd0hkVWAn7xWFY0bJS1dILFNpZ0PE130_head { this: np:hasAssertion dgn-np:NP213202.RAvRw54Htm4wtL8Dkd0hkVWAn7xWFY0bJS1dILFNpZ0PE130_assertion; np:hasProvenance dgn-np:NP213202.RAvRw54Htm4wtL8Dkd0hkVWAn7xWFY0bJS1dILFNpZ0PE130_provenance; np:hasPublicationInfo dgn-np:NP213202.RAvRw54Htm4wtL8Dkd0hkVWAn7xWFY0bJS1dILFNpZ0PE130_publicationInfo; a np:Nanopublication . dgn-np:NP213202.RAvRw54Htm4wtL8Dkd0hkVWAn7xWFY0bJS1dILFNpZ0PE130_assertion a np:Assertion . dgn-np:NP213202.RAvRw54Htm4wtL8Dkd0hkVWAn7xWFY0bJS1dILFNpZ0PE130_provenance a np:Provenance . dgn-np:NP213202.RAvRw54Htm4wtL8Dkd0hkVWAn7xWFY0bJS1dILFNpZ0PE130_publicationInfo a np:PublicationInfo . } dgn-np:NP213202.RAvRw54Htm4wtL8Dkd0hkVWAn7xWFY0bJS1dILFNpZ0PE130_assertion { miriam-gene:284086 a ncit:C16612 . lld:C3151188 a ncit:C7057 . dgn-gda:DGN7911223f5284f7c5790c317b7e8faa68 sio:SIO_000628 miriam-gene:284086, lld:C3151188; a sio:SIO_001121 . } dgn-np:NP213202.RAvRw54Htm4wtL8Dkd0hkVWAn7xWFY0bJS1dILFNpZ0PE130_provenance { dgn-np:NP213202.RAvRw54Htm4wtL8Dkd0hkVWAn7xWFY0bJS1dILFNpZ0PE130_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:NP213202.RAvRw54Htm4wtL8Dkd0hkVWAn7xWFY0bJS1dILFNpZ0PE130_publicationInfo { this: dcterms:created "2014-10-02T12:33:58+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" . }