@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:NP541997.RAxV0VPdz5Lp5NEgt34dwLvpDMA3zqlJt0p-eGE8Q4KjM130_head { this: np:hasAssertion dgn-np:NP541997.RAxV0VPdz5Lp5NEgt34dwLvpDMA3zqlJt0p-eGE8Q4KjM130_assertion; np:hasProvenance dgn-np:NP541997.RAxV0VPdz5Lp5NEgt34dwLvpDMA3zqlJt0p-eGE8Q4KjM130_provenance; np:hasPublicationInfo dgn-np:NP541997.RAxV0VPdz5Lp5NEgt34dwLvpDMA3zqlJt0p-eGE8Q4KjM130_publicationInfo; a np:Nanopublication . dgn-np:NP541997.RAxV0VPdz5Lp5NEgt34dwLvpDMA3zqlJt0p-eGE8Q4KjM130_assertion a np:Assertion . dgn-np:NP541997.RAxV0VPdz5Lp5NEgt34dwLvpDMA3zqlJt0p-eGE8Q4KjM130_provenance a np:Provenance . dgn-np:NP541997.RAxV0VPdz5Lp5NEgt34dwLvpDMA3zqlJt0p-eGE8Q4KjM130_publicationInfo a np:PublicationInfo . } dgn-np:NP541997.RAxV0VPdz5Lp5NEgt34dwLvpDMA3zqlJt0p-eGE8Q4KjM130_assertion { miriam-gene:4068 a ncit:C16612 . lld:C1328840 a ncit:C7057 . dgn-gda:DGNcd2a17a1409fdb5d07959771b8aa6289 sio:SIO_000628 miriam-gene:4068, lld:C1328840; a sio:SIO_001121 . } dgn-np:NP541997.RAxV0VPdz5Lp5NEgt34dwLvpDMA3zqlJt0p-eGE8Q4KjM130_provenance { dgn-np:NP541997.RAxV0VPdz5Lp5NEgt34dwLvpDMA3zqlJt0p-eGE8Q4KjM130_assertion dcterms:description "[Because quantitative defects in apoptosis were similar in mutation-positive relatives regardless of the presence of clinical ALPS, factors, other than modifiers of the Fas apoptosis pathway, leading to these distinctive immunophenotypic profiles most likely contribute to disease penetrance in ALPS.]. 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:11588044; 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:NP541997.RAxV0VPdz5Lp5NEgt34dwLvpDMA3zqlJt0p-eGE8Q4KjM130_publicationInfo { this: dcterms:created "2015-08-25T14:43:00+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" . }