@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:NP155741.RAQcDEe7lpLeqplz1Yqo3t1LcaAkCCamW9hFSGeldXaXo130_head { this: np:hasAssertion dgn-np:NP155741.RAQcDEe7lpLeqplz1Yqo3t1LcaAkCCamW9hFSGeldXaXo130_assertion; np:hasProvenance dgn-np:NP155741.RAQcDEe7lpLeqplz1Yqo3t1LcaAkCCamW9hFSGeldXaXo130_provenance; np:hasPublicationInfo dgn-np:NP155741.RAQcDEe7lpLeqplz1Yqo3t1LcaAkCCamW9hFSGeldXaXo130_publicationInfo; a np:Nanopublication . dgn-np:NP155741.RAQcDEe7lpLeqplz1Yqo3t1LcaAkCCamW9hFSGeldXaXo130_assertion a np:Assertion . dgn-np:NP155741.RAQcDEe7lpLeqplz1Yqo3t1LcaAkCCamW9hFSGeldXaXo130_provenance a np:Provenance . dgn-np:NP155741.RAQcDEe7lpLeqplz1Yqo3t1LcaAkCCamW9hFSGeldXaXo130_publicationInfo a np:PublicationInfo . } dgn-np:NP155741.RAQcDEe7lpLeqplz1Yqo3t1LcaAkCCamW9hFSGeldXaXo130_assertion { miriam-gene:1482 a ncit:C16612 . lld:C0018817 a ncit:C7057 . dgn-gda:DGNd37abc48c5e0917a7446a51ae575195d sio:SIO_000628 miriam-gene:1482, lld:C0018817; a sio:SIO_001121 . } dgn-np:NP155741.RAQcDEe7lpLeqplz1Yqo3t1LcaAkCCamW9hFSGeldXaXo130_provenance { dgn-np:NP155741.RAQcDEe7lpLeqplz1Yqo3t1LcaAkCCamW9hFSGeldXaXo130_assertion dcterms:description "[We analyzed GATA4 and NKX2.5 mutations in 16 familial ASD cases, including four probands with atrioventricular conduction disturbance (AV block) and two with pulmonary stenosis (PS), by PCR and direct sequencing, and examined their phenotypes clinically.]. 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:15810002; 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:NP155741.RAQcDEe7lpLeqplz1Yqo3t1LcaAkCCamW9hFSGeldXaXo130_publicationInfo { this: dcterms:created "2014-10-02T12:33:22+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" . }