@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:NP274787.RA_QF0vwE2kdqtbDx59qbz_aZ2Coevl85iFt5Qn8Bp2yk130_head { this: np:hasAssertion dgn-np:NP274787.RA_QF0vwE2kdqtbDx59qbz_aZ2Coevl85iFt5Qn8Bp2yk130_assertion; np:hasProvenance dgn-np:NP274787.RA_QF0vwE2kdqtbDx59qbz_aZ2Coevl85iFt5Qn8Bp2yk130_provenance; np:hasPublicationInfo dgn-np:NP274787.RA_QF0vwE2kdqtbDx59qbz_aZ2Coevl85iFt5Qn8Bp2yk130_publicationInfo; a np:Nanopublication . dgn-np:NP274787.RA_QF0vwE2kdqtbDx59qbz_aZ2Coevl85iFt5Qn8Bp2yk130_assertion a np:Assertion . dgn-np:NP274787.RA_QF0vwE2kdqtbDx59qbz_aZ2Coevl85iFt5Qn8Bp2yk130_provenance a np:Provenance . dgn-np:NP274787.RA_QF0vwE2kdqtbDx59qbz_aZ2Coevl85iFt5Qn8Bp2yk130_publicationInfo a np:PublicationInfo . } dgn-np:NP274787.RA_QF0vwE2kdqtbDx59qbz_aZ2Coevl85iFt5Qn8Bp2yk130_assertion { miriam-gene:695 a ncit:C16612 . lld:C0027947 a ncit:C7057 . dgn-gda:DGN035a31aea11028cd47e7d385d5124f8f sio:SIO_000628 miriam-gene:695, lld:C0027947; a sio:SIO_001121 . } dgn-np:NP274787.RA_QF0vwE2kdqtbDx59qbz_aZ2Coevl85iFt5Qn8Bp2yk130_provenance { dgn-np:NP274787.RA_QF0vwE2kdqtbDx59qbz_aZ2Coevl85iFt5Qn8Bp2yk130_assertion dcterms:description "[Although neutropenia was not associated with any specific mutation in Btk, most of the alterations in this gene in the patients with XLA and neutropenia resulted in the absence of Btk protein or in amino acid substitutions in sites thought to be critical to Btk 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:8938104; 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:NP274787.RA_QF0vwE2kdqtbDx59qbz_aZ2Coevl85iFt5Qn8Bp2yk130_publicationInfo { this: dcterms:created "2015-08-25T14:40:16+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" . }