@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:NP1282628.RAQ2Z47qCU7K6n1UTb4zWCSu7ekA7_9jDOoXolEvCKjP4130_head { this: np:hasAssertion dgn-np:NP1282628.RAQ2Z47qCU7K6n1UTb4zWCSu7ekA7_9jDOoXolEvCKjP4130_assertion; np:hasProvenance dgn-np:NP1282628.RAQ2Z47qCU7K6n1UTb4zWCSu7ekA7_9jDOoXolEvCKjP4130_provenance; np:hasPublicationInfo dgn-np:NP1282628.RAQ2Z47qCU7K6n1UTb4zWCSu7ekA7_9jDOoXolEvCKjP4130_publicationInfo; a np:Nanopublication . dgn-np:NP1282628.RAQ2Z47qCU7K6n1UTb4zWCSu7ekA7_9jDOoXolEvCKjP4130_assertion a np:Assertion . dgn-np:NP1282628.RAQ2Z47qCU7K6n1UTb4zWCSu7ekA7_9jDOoXolEvCKjP4130_provenance a np:Provenance . dgn-np:NP1282628.RAQ2Z47qCU7K6n1UTb4zWCSu7ekA7_9jDOoXolEvCKjP4130_publicationInfo a np:PublicationInfo . } dgn-np:NP1282628.RAQ2Z47qCU7K6n1UTb4zWCSu7ekA7_9jDOoXolEvCKjP4130_assertion { miriam-gene:348 a ncit:C16612 . lld:C0002395 a ncit:C7057 . dgn-gda:DGN9000cd162682eaefb14be8011207c08a sio:SIO_000628 miriam-gene:348, lld:C0002395; a sio:SIO_001122 . } dgn-np:NP1282628.RAQ2Z47qCU7K6n1UTb4zWCSu7ekA7_9jDOoXolEvCKjP4130_provenance { dgn-np:NP1282628.RAQ2Z47qCU7K6n1UTb4zWCSu7ekA7_9jDOoXolEvCKjP4130_assertion dcterms:description "[Our findings, also supported by the β-amyloid plasma assay, confirm (1) the pathogenic role of the APP A713T mutation, (2) the specific phenotype (AD with cerebrovascular lesions) associated with this mutation, and (3) the large span of age at onset, not influenced by APOE, TOMM40, and TREM2 genes.]. 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:25948718; 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:NP1282628.RAQ2Z47qCU7K6n1UTb4zWCSu7ekA7_9jDOoXolEvCKjP4130_publicationInfo { this: dcterms:created "2016-05-13T12:51:27+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" . }