@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:NP1279656.RAdktA2n3Ud9kA2VyFYameMEN_qSJU_RKqsJo92MKd4yA130_head { this: np:hasAssertion dgn-np:NP1279656.RAdktA2n3Ud9kA2VyFYameMEN_qSJU_RKqsJo92MKd4yA130_assertion; np:hasProvenance dgn-np:NP1279656.RAdktA2n3Ud9kA2VyFYameMEN_qSJU_RKqsJo92MKd4yA130_provenance; np:hasPublicationInfo dgn-np:NP1279656.RAdktA2n3Ud9kA2VyFYameMEN_qSJU_RKqsJo92MKd4yA130_publicationInfo; a np:Nanopublication . dgn-np:NP1279656.RAdktA2n3Ud9kA2VyFYameMEN_qSJU_RKqsJo92MKd4yA130_assertion a np:Assertion . dgn-np:NP1279656.RAdktA2n3Ud9kA2VyFYameMEN_qSJU_RKqsJo92MKd4yA130_provenance a np:Provenance . dgn-np:NP1279656.RAdktA2n3Ud9kA2VyFYameMEN_qSJU_RKqsJo92MKd4yA130_publicationInfo a np:PublicationInfo . } dgn-np:NP1279656.RAdktA2n3Ud9kA2VyFYameMEN_qSJU_RKqsJo92MKd4yA130_assertion { miriam-gene:5308 a ncit:C16612 . lld:C0010068 a ncit:C7057 . dgn-gda:DGNc1597d5d37fa4859935e0c0894327d9b sio:SIO_000628 miriam-gene:5308, lld:C0010068; a sio:SIO_001121 . } dgn-np:NP1279656.RAdktA2n3Ud9kA2VyFYameMEN_qSJU_RKqsJo92MKd4yA130_provenance { dgn-np:NP1279656.RAdktA2n3Ud9kA2VyFYameMEN_qSJU_RKqsJo92MKd4yA130_assertion dcterms:description "[In the present study, the coding exons and flanking introns of the PITX2 gene, which encodes a paired-like homeodomain transcription factor 2essential for cardiovascular morphogenesis as well as maxillary facial development, was sequenced in 196 unrelated patients with CHD and subsequently in the mutation carrier's family members available.]. 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:25893250; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP1279656.RAdktA2n3Ud9kA2VyFYameMEN_qSJU_RKqsJo92MKd4yA130_publicationInfo { this: dcterms:created "2016-05-13T12:51:26+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 "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }