@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:NP476736.RApUWP6uINfKSdF5dKmvSvI0cguJn9OcHBqjVGlUgLLCY130_head { this: np:hasAssertion dgn-np:NP476736.RApUWP6uINfKSdF5dKmvSvI0cguJn9OcHBqjVGlUgLLCY130_assertion; np:hasProvenance dgn-np:NP476736.RApUWP6uINfKSdF5dKmvSvI0cguJn9OcHBqjVGlUgLLCY130_provenance; np:hasPublicationInfo dgn-np:NP476736.RApUWP6uINfKSdF5dKmvSvI0cguJn9OcHBqjVGlUgLLCY130_publicationInfo; a np:Nanopublication . dgn-np:NP476736.RApUWP6uINfKSdF5dKmvSvI0cguJn9OcHBqjVGlUgLLCY130_assertion a np:Assertion . dgn-np:NP476736.RApUWP6uINfKSdF5dKmvSvI0cguJn9OcHBqjVGlUgLLCY130_provenance a np:Provenance . dgn-np:NP476736.RApUWP6uINfKSdF5dKmvSvI0cguJn9OcHBqjVGlUgLLCY130_publicationInfo a np:PublicationInfo . } dgn-np:NP476736.RApUWP6uINfKSdF5dKmvSvI0cguJn9OcHBqjVGlUgLLCY130_assertion { miriam-gene:1991 a ncit:C16612 . lld:C0027947 a ncit:C7057 . dgn-gda:DGNaedd4f8fdb32ebdbee4bf8796b5d905e sio:SIO_000628 miriam-gene:1991, lld:C0027947; a sio:SIO_001122 . } dgn-np:NP476736.RApUWP6uINfKSdF5dKmvSvI0cguJn9OcHBqjVGlUgLLCY130_provenance { dgn-np:NP476736.RApUWP6uINfKSdF5dKmvSvI0cguJn9OcHBqjVGlUgLLCY130_assertion dcterms:description "[These observations provide further insight into potential mechanisms by which NE mutations cause neutropenia and suggest that abnormal protein trafficking and accelerated apoptosis of differentiating myeloid cells contribute to the severe SCN phenotype resulting from the G185R mutation.]. 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:15657182; 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:NP476736.RApUWP6uINfKSdF5dKmvSvI0cguJn9OcHBqjVGlUgLLCY130_publicationInfo { this: dcterms:created "2016-05-13T12:45:21+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" . }