@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:NP317202.RAkDduxLLf4HRwFwhjwb-cxwwmEvqSkt_9S3QeATS3kmI130_head { this: np:hasAssertion dgn-np:NP317202.RAkDduxLLf4HRwFwhjwb-cxwwmEvqSkt_9S3QeATS3kmI130_assertion; np:hasProvenance dgn-np:NP317202.RAkDduxLLf4HRwFwhjwb-cxwwmEvqSkt_9S3QeATS3kmI130_provenance; np:hasPublicationInfo dgn-np:NP317202.RAkDduxLLf4HRwFwhjwb-cxwwmEvqSkt_9S3QeATS3kmI130_publicationInfo; a np:Nanopublication . dgn-np:NP317202.RAkDduxLLf4HRwFwhjwb-cxwwmEvqSkt_9S3QeATS3kmI130_assertion a np:Assertion . dgn-np:NP317202.RAkDduxLLf4HRwFwhjwb-cxwwmEvqSkt_9S3QeATS3kmI130_provenance a np:Provenance . dgn-np:NP317202.RAkDduxLLf4HRwFwhjwb-cxwwmEvqSkt_9S3QeATS3kmI130_publicationInfo a np:PublicationInfo . } dgn-np:NP317202.RAkDduxLLf4HRwFwhjwb-cxwwmEvqSkt_9S3QeATS3kmI130_assertion { miriam-gene:1441 a ncit:C16612 . lld:C0340970 a ncit:C7057 . dgn-gda:DGNb9d53c6e977176c5ee5c3bfc5cb99154 sio:SIO_000628 miriam-gene:1441, lld:C0340970; a sio:SIO_001121 . } dgn-np:NP317202.RAkDduxLLf4HRwFwhjwb-cxwwmEvqSkt_9S3QeATS3kmI130_provenance { dgn-np:NP317202.RAkDduxLLf4HRwFwhjwb-cxwwmEvqSkt_9S3QeATS3kmI130_assertion dcterms:description "[Point mutations of the granulocyte-colony stimulating factor receptor (G-CSFR) resulting in an abnormally truncated receptor have been implicated in the pathogenesis of some cases of severe congenital neutropenia (SCN) and in the transformation of SCN to acute myeloid leukaemia (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:9576194; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP317202.RAkDduxLLf4HRwFwhjwb-cxwwmEvqSkt_9S3QeATS3kmI130_publicationInfo { this: dcterms:created "2014-10-02T12:35:04+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }