@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:NP424371.RA9J8RoOMfE9-p2Y7abl6lcYdZodQlRB-l_sfE_S8loF0130_head { this: np:hasAssertion dgn-np:NP424371.RA9J8RoOMfE9-p2Y7abl6lcYdZodQlRB-l_sfE_S8loF0130_assertion; np:hasProvenance dgn-np:NP424371.RA9J8RoOMfE9-p2Y7abl6lcYdZodQlRB-l_sfE_S8loF0130_provenance; np:hasPublicationInfo dgn-np:NP424371.RA9J8RoOMfE9-p2Y7abl6lcYdZodQlRB-l_sfE_S8loF0130_publicationInfo; a np:Nanopublication . dgn-np:NP424371.RA9J8RoOMfE9-p2Y7abl6lcYdZodQlRB-l_sfE_S8loF0130_assertion a np:Assertion . dgn-np:NP424371.RA9J8RoOMfE9-p2Y7abl6lcYdZodQlRB-l_sfE_S8loF0130_provenance a np:Provenance . dgn-np:NP424371.RA9J8RoOMfE9-p2Y7abl6lcYdZodQlRB-l_sfE_S8loF0130_publicationInfo a np:PublicationInfo . } dgn-np:NP424371.RA9J8RoOMfE9-p2Y7abl6lcYdZodQlRB-l_sfE_S8loF0130_assertion { miriam-gene:4853 a ncit:C16612 . lld:C0023530 a ncit:C7057 . dgn-gda:DGNc5f6ba65418f4279b1fe4262711d7b1a sio:SIO_000628 miriam-gene:4853, lld:C0023530; a sio:SIO_001121 . } dgn-np:NP424371.RA9J8RoOMfE9-p2Y7abl6lcYdZodQlRB-l_sfE_S8loF0130_provenance { dgn-np:NP424371.RA9J8RoOMfE9-p2Y7abl6lcYdZodQlRB-l_sfE_S8loF0130_assertion dcterms:description "[Disease-causing mutations of neutrophil elastase disrupt the interaction with N2N, impair proteolysis of N2N and Notch2, and interfere with Notch2 signaling, suggesting defective proteolysis of an inhibitory form of Notch as an explanation for the alternate switching of cell fates characteristic of hereditary neutropenia.]. 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:14673143; 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:NP424371.RA9J8RoOMfE9-p2Y7abl6lcYdZodQlRB-l_sfE_S8loF0130_publicationInfo { this: dcterms:created "2016-05-13T12:44:57+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" . }