@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:NP194380.RAvkKm7Ln_8SGasZdi7R2p9g6wkho16L1osouX1rsJdWo130_head { this: np:hasAssertion dgn-np:NP194380.RAvkKm7Ln_8SGasZdi7R2p9g6wkho16L1osouX1rsJdWo130_assertion; np:hasProvenance dgn-np:NP194380.RAvkKm7Ln_8SGasZdi7R2p9g6wkho16L1osouX1rsJdWo130_provenance; np:hasPublicationInfo dgn-np:NP194380.RAvkKm7Ln_8SGasZdi7R2p9g6wkho16L1osouX1rsJdWo130_publicationInfo; a np:Nanopublication . dgn-np:NP194380.RAvkKm7Ln_8SGasZdi7R2p9g6wkho16L1osouX1rsJdWo130_assertion a np:Assertion . dgn-np:NP194380.RAvkKm7Ln_8SGasZdi7R2p9g6wkho16L1osouX1rsJdWo130_provenance a np:Provenance . dgn-np:NP194380.RAvkKm7Ln_8SGasZdi7R2p9g6wkho16L1osouX1rsJdWo130_publicationInfo a np:PublicationInfo . } dgn-np:NP194380.RAvkKm7Ln_8SGasZdi7R2p9g6wkho16L1osouX1rsJdWo130_assertion { miriam-gene:7031 a ncit:C16612 . lld:C0276496 a ncit:C7057 . dgn-gda:DGNc4d61133c2a152185a94cf8e9d02437f sio:SIO_000628 miriam-gene:7031, lld:C0276496; a sio:SIO_001121 . } dgn-np:NP194380.RAvkKm7Ln_8SGasZdi7R2p9g6wkho16L1osouX1rsJdWo130_provenance { dgn-np:NP194380.RAvkKm7Ln_8SGasZdi7R2p9g6wkho16L1osouX1rsJdWo130_assertion dcterms:description "[Eleven early-onset dementia families, all with affected individuals who have either presented clinical symptoms of early onset familial Alzheimer's disease (EOFAD) or have been confirmed to have EOFAD by autopsy, and two early onset cases with biopsy-confirmed AD pathology, were screened for missense mutations in the entire coding region of presenilin-1 (PS-1) and -2 (PS-2) 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:9172170; 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:NP194380.RAvkKm7Ln_8SGasZdi7R2p9g6wkho16L1osouX1rsJdWo130_publicationInfo { this: dcterms:created "2014-10-02T12:33:47+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" . }