@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:NP1300302.RA4epV9gPvvFoRczcewPaGJfJaey-qMyTGFTexIo5u2qU130_head { this: np:hasAssertion dgn-np:NP1300302.RA4epV9gPvvFoRczcewPaGJfJaey-qMyTGFTexIo5u2qU130_assertion; np:hasProvenance dgn-np:NP1300302.RA4epV9gPvvFoRczcewPaGJfJaey-qMyTGFTexIo5u2qU130_provenance; np:hasPublicationInfo dgn-np:NP1300302.RA4epV9gPvvFoRczcewPaGJfJaey-qMyTGFTexIo5u2qU130_publicationInfo; a np:Nanopublication . dgn-np:NP1300302.RA4epV9gPvvFoRczcewPaGJfJaey-qMyTGFTexIo5u2qU130_assertion a np:Assertion . dgn-np:NP1300302.RA4epV9gPvvFoRczcewPaGJfJaey-qMyTGFTexIo5u2qU130_provenance a np:Provenance . dgn-np:NP1300302.RA4epV9gPvvFoRczcewPaGJfJaey-qMyTGFTexIo5u2qU130_publicationInfo a np:PublicationInfo . } dgn-np:NP1300302.RA4epV9gPvvFoRczcewPaGJfJaey-qMyTGFTexIo5u2qU130_assertion { miriam-gene:100 a ncit:C16612 . lld:C0085110 a ncit:C7057 . dgn-gda:DGN838bdd4fc220208fb5c65792c4218af3 sio:SIO_000628 miriam-gene:100, lld:C0085110; a sio:SIO_001121 . } dgn-np:NP1300302.RA4epV9gPvvFoRczcewPaGJfJaey-qMyTGFTexIo5u2qU130_provenance { dgn-np:NP1300302.RA4epV9gPvvFoRczcewPaGJfJaey-qMyTGFTexIo5u2qU130_assertion dcterms:description "[Complete absence of ADA from white cells lead to the development of severe combined immunodeficiency, but even minimal residual ADA and PNP activity allowed maturation of the immune system with normal immune function.]. 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:3137899; 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:NP1300302.RA4epV9gPvvFoRczcewPaGJfJaey-qMyTGFTexIo5u2qU130_publicationInfo { this: dcterms:created "2016-05-13T12:51:35+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" . }