@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:NP274780.RAhxPE4GelMBGHp9fCr9aoqH6CV2KqoVCyzok59XbU0dk130_head { this: np:hasAssertion dgn-np:NP274780.RAhxPE4GelMBGHp9fCr9aoqH6CV2KqoVCyzok59XbU0dk130_assertion; np:hasProvenance dgn-np:NP274780.RAhxPE4GelMBGHp9fCr9aoqH6CV2KqoVCyzok59XbU0dk130_provenance; np:hasPublicationInfo dgn-np:NP274780.RAhxPE4GelMBGHp9fCr9aoqH6CV2KqoVCyzok59XbU0dk130_publicationInfo; a np:Nanopublication . dgn-np:NP274780.RAhxPE4GelMBGHp9fCr9aoqH6CV2KqoVCyzok59XbU0dk130_assertion a np:Assertion . dgn-np:NP274780.RAhxPE4GelMBGHp9fCr9aoqH6CV2KqoVCyzok59XbU0dk130_provenance a np:Provenance . dgn-np:NP274780.RAhxPE4GelMBGHp9fCr9aoqH6CV2KqoVCyzok59XbU0dk130_publicationInfo a np:PublicationInfo . } dgn-np:NP274780.RAhxPE4GelMBGHp9fCr9aoqH6CV2KqoVCyzok59XbU0dk130_assertion { miriam-gene:695 a ncit:C16612 . lld:C0023530 a ncit:C7057 . dgn-gda:DGNffcc921f3f8d9dbc4fa3da933d5cd89b sio:SIO_000628 miriam-gene:695, lld:C0023530; a sio:SIO_001121 . } dgn-np:NP274780.RAhxPE4GelMBGHp9fCr9aoqH6CV2KqoVCyzok59XbU0dk130_provenance { dgn-np:NP274780.RAhxPE4GelMBGHp9fCr9aoqH6CV2KqoVCyzok59XbU0dk130_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:NP274780.RAhxPE4GelMBGHp9fCr9aoqH6CV2KqoVCyzok59XbU0dk130_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" . }