@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:NP195461.RAV6SwxVTcleqguq0njJy9gD6qn1u95YUbvbRGJ5f2Ejk130_head { this: np:hasAssertion dgn-np:NP195461.RAV6SwxVTcleqguq0njJy9gD6qn1u95YUbvbRGJ5f2Ejk130_assertion; np:hasProvenance dgn-np:NP195461.RAV6SwxVTcleqguq0njJy9gD6qn1u95YUbvbRGJ5f2Ejk130_provenance; np:hasPublicationInfo dgn-np:NP195461.RAV6SwxVTcleqguq0njJy9gD6qn1u95YUbvbRGJ5f2Ejk130_publicationInfo; a np:Nanopublication . dgn-np:NP195461.RAV6SwxVTcleqguq0njJy9gD6qn1u95YUbvbRGJ5f2Ejk130_assertion a np:Assertion . dgn-np:NP195461.RAV6SwxVTcleqguq0njJy9gD6qn1u95YUbvbRGJ5f2Ejk130_provenance a np:Provenance . dgn-np:NP195461.RAV6SwxVTcleqguq0njJy9gD6qn1u95YUbvbRGJ5f2Ejk130_publicationInfo a np:PublicationInfo . } dgn-np:NP195461.RAV6SwxVTcleqguq0njJy9gD6qn1u95YUbvbRGJ5f2Ejk130_assertion { miriam-gene:958 a ncit:C16612 . lld:C1720957 a ncit:C7057 . dgn-gda:DGN8b238e268255c04b2e5f4e35ff2019d9 sio:SIO_000628 miriam-gene:958, lld:C1720957; a sio:SIO_001121 . } dgn-np:NP195461.RAV6SwxVTcleqguq0njJy9gD6qn1u95YUbvbRGJ5f2Ejk130_provenance { dgn-np:NP195461.RAV6SwxVTcleqguq0njJy9gD6qn1u95YUbvbRGJ5f2Ejk130_assertion dcterms:description "[This observation emphasizes the requirement of CD40 mutation analysis for definite diagnosis of HIGM3 despite normal flow cytometric expression of CD40, particularly if the immunological and clinical profile is suggestive for HIGM3.]. 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:22443339; 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:NP195461.RAV6SwxVTcleqguq0njJy9gD6qn1u95YUbvbRGJ5f2Ejk130_publicationInfo { this: dcterms:created "2014-10-02T12:33:47+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" . }