@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:NP369859.RA9Of1IbGeqCj8z-EuBTkDtOkpKxD7ilkAbDF1is5i2io130_head { this: np:hasAssertion dgn-np:NP369859.RA9Of1IbGeqCj8z-EuBTkDtOkpKxD7ilkAbDF1is5i2io130_assertion; np:hasProvenance dgn-np:NP369859.RA9Of1IbGeqCj8z-EuBTkDtOkpKxD7ilkAbDF1is5i2io130_provenance; np:hasPublicationInfo dgn-np:NP369859.RA9Of1IbGeqCj8z-EuBTkDtOkpKxD7ilkAbDF1is5i2io130_publicationInfo; a np:Nanopublication . dgn-np:NP369859.RA9Of1IbGeqCj8z-EuBTkDtOkpKxD7ilkAbDF1is5i2io130_assertion a np:Assertion . dgn-np:NP369859.RA9Of1IbGeqCj8z-EuBTkDtOkpKxD7ilkAbDF1is5i2io130_provenance a np:Provenance . dgn-np:NP369859.RA9Of1IbGeqCj8z-EuBTkDtOkpKxD7ilkAbDF1is5i2io130_publicationInfo a np:PublicationInfo . } dgn-np:NP369859.RA9Of1IbGeqCj8z-EuBTkDtOkpKxD7ilkAbDF1is5i2io130_assertion { miriam-gene:1956 a ncit:C16612 . lld:C0521158 a ncit:C7057 . dgn-gda:DGNe79e7c874876db81a629cfa647df0c8c sio:SIO_000628 miriam-gene:1956, lld:C0521158; a sio:SIO_001121 . } dgn-np:NP369859.RA9Of1IbGeqCj8z-EuBTkDtOkpKxD7ilkAbDF1is5i2io130_provenance { dgn-np:NP369859.RA9Of1IbGeqCj8z-EuBTkDtOkpKxD7ilkAbDF1is5i2io130_assertion dcterms:description "[Although complete retention of SMARCB1 (INI1) was observed in all 5 cases, epidermal growth factor receptor (EGFR) amplification, PTEN (phosphatase and tensin homolog) loss, homozygous deletion of cyclin-dependent kinase inhibitor 2A, 1p/19q codeletion, and isocitrate dehydrogenase 1 R132/IDH2 R172 mutation were not observed in any case, although a high level of EGFR polysomy was detected in 1 recurrent tumor.]. 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:24457079; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP369859.RA9Of1IbGeqCj8z-EuBTkDtOkpKxD7ilkAbDF1is5i2io130_publicationInfo { this: dcterms:created "2015-08-25T14:41:13+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }