@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:NP415812.RAV85Eum_V8f4sat4BWYaoyHMejQ1UCodJeZywN5s-CII130_head { this: np:hasAssertion dgn-np:NP415812.RAV85Eum_V8f4sat4BWYaoyHMejQ1UCodJeZywN5s-CII130_assertion; np:hasProvenance dgn-np:NP415812.RAV85Eum_V8f4sat4BWYaoyHMejQ1UCodJeZywN5s-CII130_provenance; np:hasPublicationInfo dgn-np:NP415812.RAV85Eum_V8f4sat4BWYaoyHMejQ1UCodJeZywN5s-CII130_publicationInfo; a np:Nanopublication . dgn-np:NP415812.RAV85Eum_V8f4sat4BWYaoyHMejQ1UCodJeZywN5s-CII130_assertion a np:Assertion . dgn-np:NP415812.RAV85Eum_V8f4sat4BWYaoyHMejQ1UCodJeZywN5s-CII130_provenance a np:Provenance . dgn-np:NP415812.RAV85Eum_V8f4sat4BWYaoyHMejQ1UCodJeZywN5s-CII130_publicationInfo a np:PublicationInfo . } dgn-np:NP415812.RAV85Eum_V8f4sat4BWYaoyHMejQ1UCodJeZywN5s-CII130_assertion { miriam-gene:2542 a ncit:C16612 . lld:C0023530 a ncit:C7057 . dgn-gda:DGNe544ac3080b39290d98ea70bc71587d1 sio:SIO_000628 miriam-gene:2542, lld:C0023530; a sio:SIO_001121 . } dgn-np:NP415812.RAV85Eum_V8f4sat4BWYaoyHMejQ1UCodJeZywN5s-CII130_provenance { dgn-np:NP415812.RAV85Eum_V8f4sat4BWYaoyHMejQ1UCodJeZywN5s-CII130_assertion dcterms:description "[We analysed the presence of a correlation among both the clinical features associated with GSD1b (neutropenia, frequency of admission to the hospital for severe infections) and the presence of systemic complications (liver adenomas, nephropathy, bone mineral density defect, polycystic ovaries, short stature, inflammatory bowel disease) and the mutations detected in each patient.]. 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:15906092; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP415812.RAV85Eum_V8f4sat4BWYaoyHMejQ1UCodJeZywN5s-CII130_publicationInfo { this: dcterms:created "2015-08-25T14:41:42+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }