@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:NP203263.RAXbsxV6zYm4cKBB_CVdPcKCc7dYMj1XdJfKJ4lfp__8s130_head { this: np:hasAssertion dgn-np:NP203263.RAXbsxV6zYm4cKBB_CVdPcKCc7dYMj1XdJfKJ4lfp__8s130_assertion; np:hasProvenance dgn-np:NP203263.RAXbsxV6zYm4cKBB_CVdPcKCc7dYMj1XdJfKJ4lfp__8s130_provenance; np:hasPublicationInfo dgn-np:NP203263.RAXbsxV6zYm4cKBB_CVdPcKCc7dYMj1XdJfKJ4lfp__8s130_publicationInfo; a np:Nanopublication . dgn-np:NP203263.RAXbsxV6zYm4cKBB_CVdPcKCc7dYMj1XdJfKJ4lfp__8s130_assertion a np:Assertion . dgn-np:NP203263.RAXbsxV6zYm4cKBB_CVdPcKCc7dYMj1XdJfKJ4lfp__8s130_provenance a np:Provenance . dgn-np:NP203263.RAXbsxV6zYm4cKBB_CVdPcKCc7dYMj1XdJfKJ4lfp__8s130_publicationInfo a np:PublicationInfo . } dgn-np:NP203263.RAXbsxV6zYm4cKBB_CVdPcKCc7dYMj1XdJfKJ4lfp__8s130_assertion { miriam-gene:6921 a ncit:C16612 . lld:C2931852 a ncit:C7057 . dgn-gda:DGNb8e4ff7107f50d8f5b6c491a94633b85 sio:SIO_000628 miriam-gene:6921, lld:C2931852; a sio:SIO_001121 . } dgn-np:NP203263.RAXbsxV6zYm4cKBB_CVdPcKCc7dYMj1XdJfKJ4lfp__8s130_provenance { dgn-np:NP203263.RAXbsxV6zYm4cKBB_CVdPcKCc7dYMj1XdJfKJ4lfp__8s130_assertion dcterms:description "[To assess the role of elongin B/C, Rbx1 and HIF-1alpha in RCC tumorigenesis we (a) mapped the genes to chromosomes 8q(cen) (elongin C), 16p13.3 (elongin B) and 22q11.2 (Rbx1) by FISH, monochromosomal somatic cell hybrid panel screening and in silico GenBank homology searching; (b) determined the genomic organisation of elongin C (by direct sequencing of PAC clones), Rbx1 and elongin B (by GenBank homology searching); and (c) performed mutation analysis of exons comprising the coding regions of elongins B, C and Rbx1 and the oxygen-dependent degradation domain of HIF-1alpha by SSCP screening and direct sequencing in 35 sporadic clear cell RCC samples without VHL gene inactivation and in 13 individuals with familial non-VHL clear cell RCC.]. 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:11526493; 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:NP203263.RAXbsxV6zYm4cKBB_CVdPcKCc7dYMj1XdJfKJ4lfp__8s130_publicationInfo { this: dcterms:created "2014-10-02T12:33:52+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" . }