@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:NP656362.RAkhm0EerJVMjg5GSKBFYpP6y45HQDCTMMHAWGuA96JJg130_head { this: np:hasAssertion dgn-np:NP656362.RAkhm0EerJVMjg5GSKBFYpP6y45HQDCTMMHAWGuA96JJg130_assertion; np:hasProvenance dgn-np:NP656362.RAkhm0EerJVMjg5GSKBFYpP6y45HQDCTMMHAWGuA96JJg130_provenance; np:hasPublicationInfo dgn-np:NP656362.RAkhm0EerJVMjg5GSKBFYpP6y45HQDCTMMHAWGuA96JJg130_publicationInfo; a np:Nanopublication . dgn-np:NP656362.RAkhm0EerJVMjg5GSKBFYpP6y45HQDCTMMHAWGuA96JJg130_assertion a np:Assertion . dgn-np:NP656362.RAkhm0EerJVMjg5GSKBFYpP6y45HQDCTMMHAWGuA96JJg130_provenance a np:Provenance . dgn-np:NP656362.RAkhm0EerJVMjg5GSKBFYpP6y45HQDCTMMHAWGuA96JJg130_publicationInfo a np:PublicationInfo . } dgn-np:NP656362.RAkhm0EerJVMjg5GSKBFYpP6y45HQDCTMMHAWGuA96JJg130_assertion { miriam-gene:5781 a ncit:C16612 . lld:C0175704 a ncit:C7057 . dgn-gda:DGN23f0a15017a83304f076d6a851d2a539 sio:SIO_000628 miriam-gene:5781, lld:C0175704; a sio:SIO_001121 . } dgn-np:NP656362.RAkhm0EerJVMjg5GSKBFYpP6y45HQDCTMMHAWGuA96JJg130_provenance { dgn-np:NP656362.RAkhm0EerJVMjg5GSKBFYpP6y45HQDCTMMHAWGuA96JJg130_assertion dcterms:description "[Germline mutations in PTPN11 cause Noonan and LEOPARD syndromes, whereas somatic PTPN11 mutations occur in several types of hematologic malignancies, most notably juvenile myelomonocytic leukemia and, more rarely, in solid tumors.]. 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:18286234; 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:NP656362.RAkhm0EerJVMjg5GSKBFYpP6y45HQDCTMMHAWGuA96JJg130_publicationInfo { this: dcterms:created "2016-05-13T12:46:42+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" . }