@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:NP583019.RAMfSThG8K0Pm9jkXbFzt_bLWf8UzGR9MT-D7OR-MLwgM130_head { this: np:hasAssertion dgn-np:NP583019.RAMfSThG8K0Pm9jkXbFzt_bLWf8UzGR9MT-D7OR-MLwgM130_assertion; np:hasProvenance dgn-np:NP583019.RAMfSThG8K0Pm9jkXbFzt_bLWf8UzGR9MT-D7OR-MLwgM130_provenance; np:hasPublicationInfo dgn-np:NP583019.RAMfSThG8K0Pm9jkXbFzt_bLWf8UzGR9MT-D7OR-MLwgM130_publicationInfo; a np:Nanopublication . dgn-np:NP583019.RAMfSThG8K0Pm9jkXbFzt_bLWf8UzGR9MT-D7OR-MLwgM130_assertion a np:Assertion . dgn-np:NP583019.RAMfSThG8K0Pm9jkXbFzt_bLWf8UzGR9MT-D7OR-MLwgM130_provenance a np:Provenance . dgn-np:NP583019.RAMfSThG8K0Pm9jkXbFzt_bLWf8UzGR9MT-D7OR-MLwgM130_publicationInfo a np:PublicationInfo . } dgn-np:NP583019.RAMfSThG8K0Pm9jkXbFzt_bLWf8UzGR9MT-D7OR-MLwgM130_assertion { miriam-gene:4615 a ncit:C16612 . lld:C0272173 a ncit:C7057 . dgn-gda:DGN75336196917a89762b7cab3c547101f7 sio:SIO_000628 miriam-gene:4615, lld:C0272173; a sio:SIO_001122 . } dgn-np:NP583019.RAMfSThG8K0Pm9jkXbFzt_bLWf8UzGR9MT-D7OR-MLwgM130_provenance { dgn-np:NP583019.RAMfSThG8K0Pm9jkXbFzt_bLWf8UzGR9MT-D7OR-MLwgM130_assertion dcterms:description "[Validated somatic mutations occurring in >10% of patients included MYD88, CXCR4, and ARID1A that were present in 90%, 27%, and 17% of patients, respectively, and included the activating mutation L265P in MYD88 and warts, hypogammaglobulinemia, infection, and myelokathexis-syndrome-like mutations in CXCR4 that previously have only been described in the germline.]. 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:24366360; 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:NP583019.RAMfSThG8K0Pm9jkXbFzt_bLWf8UzGR9MT-D7OR-MLwgM130_publicationInfo { this: dcterms:created "2015-08-25T14:43:28+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" . }