@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:NP538892.RA2nzXWi1PW25xsUck7OyPu_K6XVcENlVMGOWjw2gsK1M130_head { this: np:hasAssertion dgn-np:NP538892.RA2nzXWi1PW25xsUck7OyPu_K6XVcENlVMGOWjw2gsK1M130_assertion; np:hasProvenance dgn-np:NP538892.RA2nzXWi1PW25xsUck7OyPu_K6XVcENlVMGOWjw2gsK1M130_provenance; np:hasPublicationInfo dgn-np:NP538892.RA2nzXWi1PW25xsUck7OyPu_K6XVcENlVMGOWjw2gsK1M130_publicationInfo; a np:Nanopublication . dgn-np:NP538892.RA2nzXWi1PW25xsUck7OyPu_K6XVcENlVMGOWjw2gsK1M130_assertion a np:Assertion . dgn-np:NP538892.RA2nzXWi1PW25xsUck7OyPu_K6XVcENlVMGOWjw2gsK1M130_provenance a np:Provenance . dgn-np:NP538892.RA2nzXWi1PW25xsUck7OyPu_K6XVcENlVMGOWjw2gsK1M130_publicationInfo a np:PublicationInfo . } dgn-np:NP538892.RA2nzXWi1PW25xsUck7OyPu_K6XVcENlVMGOWjw2gsK1M130_assertion { miriam-gene:5781 a ncit:C16612 . lld:C0023418 a ncit:C7057 . dgn-gda:DGNf4cfc1f18c39276be1c07c23170a8138 sio:SIO_000628 miriam-gene:5781, lld:C0023418; a sio:SIO_001121 . } dgn-np:NP538892.RA2nzXWi1PW25xsUck7OyPu_K6XVcENlVMGOWjw2gsK1M130_provenance { dgn-np:NP538892.RA2nzXWi1PW25xsUck7OyPu_K6XVcENlVMGOWjw2gsK1M130_assertion dcterms:description "[Given the association between NS and an increased risk of some malignancies, notably leukemia and probably some solid tumors including neuroblastoma (NB) and rhabdomyosarcoma (RMS), recent studies have reported that gain-of-function somatic mutations in PTPN11 occur in some hematological malignancies, especially de novo juvenile myelomonocytic leukemia (JMML) and in some solid tumors such as NB, although at a low frequency.]. 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:16518851; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP538892.RA2nzXWi1PW25xsUck7OyPu_K6XVcENlVMGOWjw2gsK1M130_publicationInfo { this: dcterms:created "2016-05-13T12:45:49+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 "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }