@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:NP400674.RAopDUUlw0mc4St-y_F_piBZB4h98SeInEKTt3YYXEPtA130_head { this: np:hasAssertion dgn-np:NP400674.RAopDUUlw0mc4St-y_F_piBZB4h98SeInEKTt3YYXEPtA130_assertion; np:hasProvenance dgn-np:NP400674.RAopDUUlw0mc4St-y_F_piBZB4h98SeInEKTt3YYXEPtA130_provenance; np:hasPublicationInfo dgn-np:NP400674.RAopDUUlw0mc4St-y_F_piBZB4h98SeInEKTt3YYXEPtA130_publicationInfo; a np:Nanopublication . dgn-np:NP400674.RAopDUUlw0mc4St-y_F_piBZB4h98SeInEKTt3YYXEPtA130_assertion a np:Assertion . dgn-np:NP400674.RAopDUUlw0mc4St-y_F_piBZB4h98SeInEKTt3YYXEPtA130_provenance a np:Provenance . dgn-np:NP400674.RAopDUUlw0mc4St-y_F_piBZB4h98SeInEKTt3YYXEPtA130_publicationInfo a np:PublicationInfo . } dgn-np:NP400674.RAopDUUlw0mc4St-y_F_piBZB4h98SeInEKTt3YYXEPtA130_assertion { miriam-gene:2260 a ncit:C16612 . lld:C1336733 a ncit:C7057 . dgn-gda:DGN31a565c352c548d1e5feb64cd20fb218 sio:SIO_000628 miriam-gene:2260, lld:C1336733; a sio:SIO_001122 . } dgn-np:NP400674.RAopDUUlw0mc4St-y_F_piBZB4h98SeInEKTt3YYXEPtA130_provenance { dgn-np:NP400674.RAopDUUlw0mc4St-y_F_piBZB4h98SeInEKTt3YYXEPtA130_assertion dcterms:description "[Gain-of-function mutations in ACVR1 occur in tumors of the pons in conjunction with histone H3.1 p.Lys27Met substitution, whereas FGFR1 mutations or fusions occur in thalamic tumors associated with histone H3.3 p.Lys27Met substitution.]. 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:24705250; 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:NP400674.RAopDUUlw0mc4St-y_F_piBZB4h98SeInEKTt3YYXEPtA130_publicationInfo { this: dcterms:created "2015-08-25T14:41:33+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" . }