@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:NP199171.RASNfQLwExdETBDhC_KgE7BMf8RaQG5quBYQGhysqLkKQ130_head { this: np:hasAssertion dgn-np:NP199171.RASNfQLwExdETBDhC_KgE7BMf8RaQG5quBYQGhysqLkKQ130_assertion; np:hasProvenance dgn-np:NP199171.RASNfQLwExdETBDhC_KgE7BMf8RaQG5quBYQGhysqLkKQ130_provenance; np:hasPublicationInfo dgn-np:NP199171.RASNfQLwExdETBDhC_KgE7BMf8RaQG5quBYQGhysqLkKQ130_publicationInfo; a np:Nanopublication . dgn-np:NP199171.RASNfQLwExdETBDhC_KgE7BMf8RaQG5quBYQGhysqLkKQ130_assertion a np:Assertion . dgn-np:NP199171.RASNfQLwExdETBDhC_KgE7BMf8RaQG5quBYQGhysqLkKQ130_provenance a np:Provenance . dgn-np:NP199171.RASNfQLwExdETBDhC_KgE7BMf8RaQG5quBYQGhysqLkKQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP199171.RASNfQLwExdETBDhC_KgE7BMf8RaQG5quBYQGhysqLkKQ130_assertion { miriam-gene:2626 a ncit:C16612 . lld:C0242855 a ncit:C7057 . dgn-gda:DGN1dc5e42c4bd2a1bfade89b3f81d1854a sio:SIO_000628 miriam-gene:2626, lld:C0242855; a sio:SIO_001121 . } dgn-np:NP199171.RASNfQLwExdETBDhC_KgE7BMf8RaQG5quBYQGhysqLkKQ130_provenance { dgn-np:NP199171.RASNfQLwExdETBDhC_KgE7BMf8RaQG5quBYQGhysqLkKQ130_assertion dcterms:description "[We investigated the occurrence and the prevalence of GATA4, NKX2.5, ZFPM2/FOG2, GDF1, and ISLET1 gene mutations in a large cohort of individuals with CTD, including tetralogy of Fallot with or without pulmonary atresia (TOF, 178 patients), double outlet right ventricle (DORV, 13 patients), and truncus arteriosus (11 patients).]. 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:20807224; 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:NP199171.RASNfQLwExdETBDhC_KgE7BMf8RaQG5quBYQGhysqLkKQ130_publicationInfo { this: dcterms:created "2014-10-02T12:33:50+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }