@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:NP734039.RAMo4Zo-ZPVbKf6FGtYhHCEtWa5sRn6E8d727Jg_bE4qc130_head { this: np:hasAssertion dgn-np:NP734039.RAMo4Zo-ZPVbKf6FGtYhHCEtWa5sRn6E8d727Jg_bE4qc130_assertion; np:hasProvenance dgn-np:NP734039.RAMo4Zo-ZPVbKf6FGtYhHCEtWa5sRn6E8d727Jg_bE4qc130_provenance; np:hasPublicationInfo dgn-np:NP734039.RAMo4Zo-ZPVbKf6FGtYhHCEtWa5sRn6E8d727Jg_bE4qc130_publicationInfo; a np:Nanopublication . dgn-np:NP734039.RAMo4Zo-ZPVbKf6FGtYhHCEtWa5sRn6E8d727Jg_bE4qc130_assertion a np:Assertion . dgn-np:NP734039.RAMo4Zo-ZPVbKf6FGtYhHCEtWa5sRn6E8d727Jg_bE4qc130_provenance a np:Provenance . dgn-np:NP734039.RAMo4Zo-ZPVbKf6FGtYhHCEtWa5sRn6E8d727Jg_bE4qc130_publicationInfo a np:PublicationInfo . } dgn-np:NP734039.RAMo4Zo-ZPVbKf6FGtYhHCEtWa5sRn6E8d727Jg_bE4qc130_assertion { miriam-gene:7046 a ncit:C16612 . lld:C0149630 a ncit:C7057 . dgn-gda:DGN0a18d0f290fa124682a84f25d37fc334 sio:SIO_000628 miriam-gene:7046, lld:C0149630; a sio:SIO_001121 . } dgn-np:NP734039.RAMo4Zo-ZPVbKf6FGtYhHCEtWa5sRn6E8d727Jg_bE4qc130_provenance { dgn-np:NP734039.RAMo4Zo-ZPVbKf6FGtYhHCEtWa5sRn6E8d727Jg_bE4qc130_assertion dcterms:description "[All the coding exons including adjacent intronic as well as 5' and 3' untranslated (UTR) sequences of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes were screened by direct gene sequencing in 11 index patients (8 males; age = 42 ± 19 years) with familial BAV defined as two or more affected members.]. 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:23578328; 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:NP734039.RAMo4Zo-ZPVbKf6FGtYhHCEtWa5sRn6E8d727Jg_bE4qc130_publicationInfo { this: dcterms:created "2015-08-25T14:45:02+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" . }