@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:NP1391518.RAoE7NXenGplIl4CLR3nilqyxAYmFAb3PMpEazwb3EmmM130_head { this: np:hasAssertion dgn-np:NP1391518.RAoE7NXenGplIl4CLR3nilqyxAYmFAb3PMpEazwb3EmmM130_assertion; np:hasProvenance dgn-np:NP1391518.RAoE7NXenGplIl4CLR3nilqyxAYmFAb3PMpEazwb3EmmM130_provenance; np:hasPublicationInfo dgn-np:NP1391518.RAoE7NXenGplIl4CLR3nilqyxAYmFAb3PMpEazwb3EmmM130_publicationInfo; a np:Nanopublication . dgn-np:NP1391518.RAoE7NXenGplIl4CLR3nilqyxAYmFAb3PMpEazwb3EmmM130_assertion a np:Assertion . dgn-np:NP1391518.RAoE7NXenGplIl4CLR3nilqyxAYmFAb3PMpEazwb3EmmM130_provenance a np:Provenance . dgn-np:NP1391518.RAoE7NXenGplIl4CLR3nilqyxAYmFAb3PMpEazwb3EmmM130_publicationInfo a np:PublicationInfo . } dgn-np:NP1391518.RAoE7NXenGplIl4CLR3nilqyxAYmFAb3PMpEazwb3EmmM130_assertion { miriam-gene:1441 a ncit:C16612 . lld:C0023467 a ncit:C7057 . dgn-gda:DGNd6d79ba7cef25437829884091b2c4298 sio:SIO_000628 miriam-gene:1441, lld:C0023467; a sio:SIO_001121 . } dgn-np:NP1391518.RAoE7NXenGplIl4CLR3nilqyxAYmFAb3PMpEazwb3EmmM130_provenance { dgn-np:NP1391518.RAoE7NXenGplIl4CLR3nilqyxAYmFAb3PMpEazwb3EmmM130_assertion dcterms:description "[Acquired mutations in the G-CSFR resulting in truncation of the distal cytoplasmic region that mediates maturation and growth arrest signaling have been reported in patients with severe congenital neutropenia (SCN) and acute myelogenous leukemia (AML).]. 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:9517498; 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:NP1391518.RAoE7NXenGplIl4CLR3nilqyxAYmFAb3PMpEazwb3EmmM130_publicationInfo { this: dcterms:created "2016-05-13T12:52:17+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" . }