@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:NP853080.RA5rxPLKhLk13Q_O5zsZPscS-EBtVsvaqjm65WaP01aIs130_head { this: np:hasAssertion dgn-np:NP853080.RA5rxPLKhLk13Q_O5zsZPscS-EBtVsvaqjm65WaP01aIs130_assertion; np:hasProvenance dgn-np:NP853080.RA5rxPLKhLk13Q_O5zsZPscS-EBtVsvaqjm65WaP01aIs130_provenance; np:hasPublicationInfo dgn-np:NP853080.RA5rxPLKhLk13Q_O5zsZPscS-EBtVsvaqjm65WaP01aIs130_publicationInfo; a np:Nanopublication . dgn-np:NP853080.RA5rxPLKhLk13Q_O5zsZPscS-EBtVsvaqjm65WaP01aIs130_assertion a np:Assertion . dgn-np:NP853080.RA5rxPLKhLk13Q_O5zsZPscS-EBtVsvaqjm65WaP01aIs130_provenance a np:Provenance . dgn-np:NP853080.RA5rxPLKhLk13Q_O5zsZPscS-EBtVsvaqjm65WaP01aIs130_publicationInfo a np:PublicationInfo . } dgn-np:NP853080.RA5rxPLKhLk13Q_O5zsZPscS-EBtVsvaqjm65WaP01aIs130_assertion { miriam-gene:11141 a ncit:C16612 . lld:C0795887 a ncit:C7057 . dgn-gda:DGNa7b2556dfb1e5004af08140180aae906 sio:SIO_000628 miriam-gene:11141, lld:C0795887; a sio:SIO_001121 . } dgn-np:NP853080.RA5rxPLKhLk13Q_O5zsZPscS-EBtVsvaqjm65WaP01aIs130_provenance { dgn-np:NP853080.RA5rxPLKhLk13Q_O5zsZPscS-EBtVsvaqjm65WaP01aIs130_assertion dcterms:description "[We examined cell lines from patients with cGKD whose clinical features would be informative and would allow us to determine if IL1RAPL1 deletions can help to explain the MR in patients with deletions extending telomeric from DAX1.]. 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:15300857; 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:NP853080.RA5rxPLKhLk13Q_O5zsZPscS-EBtVsvaqjm65WaP01aIs130_publicationInfo { this: dcterms:created "2014-10-02T12:40:42+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" . }