@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:NP370396.RA1M9NeVa9vEAger3Dbvk2HptBHwntptPtsoiLECEHrl4130_head { this: np:hasAssertion dgn-np:NP370396.RA1M9NeVa9vEAger3Dbvk2HptBHwntptPtsoiLECEHrl4130_assertion; np:hasProvenance dgn-np:NP370396.RA1M9NeVa9vEAger3Dbvk2HptBHwntptPtsoiLECEHrl4130_provenance; np:hasPublicationInfo dgn-np:NP370396.RA1M9NeVa9vEAger3Dbvk2HptBHwntptPtsoiLECEHrl4130_publicationInfo; a np:Nanopublication . dgn-np:NP370396.RA1M9NeVa9vEAger3Dbvk2HptBHwntptPtsoiLECEHrl4130_assertion a np:Assertion . dgn-np:NP370396.RA1M9NeVa9vEAger3Dbvk2HptBHwntptPtsoiLECEHrl4130_provenance a np:Provenance . dgn-np:NP370396.RA1M9NeVa9vEAger3Dbvk2HptBHwntptPtsoiLECEHrl4130_publicationInfo a np:PublicationInfo . } dgn-np:NP370396.RA1M9NeVa9vEAger3Dbvk2HptBHwntptPtsoiLECEHrl4130_assertion { miriam-gene:182 a ncit:C16612 . lld:C0085280 a ncit:C7057 . dgn-gda:DGNb06538df96b89b6627d5f32b1695db51 sio:SIO_000628 miriam-gene:182, lld:C0085280; a sio:SIO_001121 . } dgn-np:NP370396.RA1M9NeVa9vEAger3Dbvk2HptBHwntptPtsoiLECEHrl4130_provenance { dgn-np:NP370396.RA1M9NeVa9vEAger3Dbvk2HptBHwntptPtsoiLECEHrl4130_assertion dcterms:description "[Recent studies have implicated the Notch signaling pathway in human cardiac development by demonstrating abnormalities of the JAG1 gene as the basis for Alagille syndrome and some cases of isolated tetralogy of Fallot or pulmonic stenosis.]. 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:12372254; 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:NP370396.RA1M9NeVa9vEAger3Dbvk2HptBHwntptPtsoiLECEHrl4130_publicationInfo { this: dcterms:created "2016-05-13T12:44:33+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" . }