@prefix semsc: .
@prefix dct: .
@prefix orcid: .
@prefix this: .
@prefix rdfs: .
@prefix xsd: .
@prefix ncit: .
@prefix lld: .
@prefix miriam-gene: .
@prefix miriam-pubmed: .
@prefix eco: .
@prefix wi: .
@prefix prov: .
@prefix pav: .
@prefix prv: .
@prefix np: .
@prefix dgn-np: .
@prefix dgn-gda: .
@prefix dgn-void: .
dgn-np:NP209461.RAA_kmpZJGjiyBS20nlVk5gu45rPi-1Mfa1MRdAfJsZ90130_head {
this: np:hasAssertion dgn-np:NP209461.RAA_kmpZJGjiyBS20nlVk5gu45rPi-1Mfa1MRdAfJsZ90130_assertion;
np:hasProvenance dgn-np:NP209461.RAA_kmpZJGjiyBS20nlVk5gu45rPi-1Mfa1MRdAfJsZ90130_provenance;
np:hasPublicationInfo dgn-np:NP209461.RAA_kmpZJGjiyBS20nlVk5gu45rPi-1Mfa1MRdAfJsZ90130_publicationInfo;
a np:Nanopublication .
dgn-np:NP209461.RAA_kmpZJGjiyBS20nlVk5gu45rPi-1Mfa1MRdAfJsZ90130_assertion a np:Assertion .
dgn-np:NP209461.RAA_kmpZJGjiyBS20nlVk5gu45rPi-1Mfa1MRdAfJsZ90130_provenance a np:Provenance .
dgn-np:NP209461.RAA_kmpZJGjiyBS20nlVk5gu45rPi-1Mfa1MRdAfJsZ90130_publicationInfo a
np:PublicationInfo .
}
dgn-np:NP209461.RAA_kmpZJGjiyBS20nlVk5gu45rPi-1Mfa1MRdAfJsZ90130_assertion {
miriam-gene:171023 a ncit:C16612 .
lld:C0006826 a ncit:C7057 .
dgn-gda:DGN1b76f5951f914709ac808b2ea8f74014 semsc:SIO_000628 miriam-gene:171023, lld:C0006826;
a semsc:SIO_001121 .
}
dgn-np:NP209461.RAA_kmpZJGjiyBS20nlVk5gu45rPi-1Mfa1MRdAfJsZ90130_provenance {
dgn-np:NP209461.RAA_kmpZJGjiyBS20nlVk5gu45rPi-1Mfa1MRdAfJsZ90130_assertion dct:description
"[These findings confirm that germline GATA2 mutations predispose to familial myelodysplastic syndrome/acute myeloid leukemia, and that monosomy 7 and ASXL1 mutations may be recurrent secondary genetic abnormalities triggering overt malignancy in these families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
wi:evidence dgn-void:source_evidence_literature;
semsc:SIO_000772 miriam-pubmed:22271902;
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:NP209461.RAA_kmpZJGjiyBS20nlVk5gu45rPi-1Mfa1MRdAfJsZ90130_publicationInfo {
this: dct:created "2014-10-02T12:33:55+02:00"^^xsd:dateTime;
dct:rights ;
dct:rightsHolder dgn-void:IBIGroup;
dct:subject semsc:SIO_000983;
prv:usedData dgn-void:disgenetrdf;
pav:authoredBy orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X,
orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654;
pav:createdBy orcid:0000-0003-0169-8159;
pav:version "v2.1.0.0" .
dgn-void:disgenetrdf pav:version "v2.1.0" .
}