@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:NP528430.RAfpvb7Zy7Pc8BzTg4WBtFhqakOdb3nKnh64GG4bk4-FA130_head { this: np:hasAssertion dgn-np:NP528430.RAfpvb7Zy7Pc8BzTg4WBtFhqakOdb3nKnh64GG4bk4-FA130_assertion; np:hasProvenance dgn-np:NP528430.RAfpvb7Zy7Pc8BzTg4WBtFhqakOdb3nKnh64GG4bk4-FA130_provenance; np:hasPublicationInfo dgn-np:NP528430.RAfpvb7Zy7Pc8BzTg4WBtFhqakOdb3nKnh64GG4bk4-FA130_publicationInfo; a np:Nanopublication . dgn-np:NP528430.RAfpvb7Zy7Pc8BzTg4WBtFhqakOdb3nKnh64GG4bk4-FA130_assertion a np:Assertion . dgn-np:NP528430.RAfpvb7Zy7Pc8BzTg4WBtFhqakOdb3nKnh64GG4bk4-FA130_provenance a np:Provenance . dgn-np:NP528430.RAfpvb7Zy7Pc8BzTg4WBtFhqakOdb3nKnh64GG4bk4-FA130_publicationInfo a np:PublicationInfo . } dgn-np:NP528430.RAfpvb7Zy7Pc8BzTg4WBtFhqakOdb3nKnh64GG4bk4-FA130_assertion { miriam-gene:81704 a ncit:C16612 . lld:C0022398 a ncit:C7057 . dgn-gda:DGN9c7ed5b8258e30ee5a270b48cfac4109 sio:SIO_000628 miriam-gene:81704, lld:C0022398; a sio:SIO_001121 . } dgn-np:NP528430.RAfpvb7Zy7Pc8BzTg4WBtFhqakOdb3nKnh64GG4bk4-FA130_provenance { dgn-np:NP528430.RAfpvb7Zy7Pc8BzTg4WBtFhqakOdb3nKnh64GG4bk4-FA130_assertion dcterms:description "[DOCK8 deficiency is a newly described primary immune deficiency resulting in profound susceptibility to cutaneous viral infections, elevated IgE levels, and eosinophilia, but lacking in the skeletal manifestations commonly seen in hyper IgE syndrome, which it otherwise resembles.]. 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:21178274; 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:NP528430.RAfpvb7Zy7Pc8BzTg4WBtFhqakOdb3nKnh64GG4bk4-FA130_publicationInfo { this: dcterms:created "2014-10-02T12:37:19+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" . }