@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:NP488230.RA0E4u1a7KGIPetiHx0aBg8v0vo7AuiD3WlGN3_zVCfRQ130_head { this: np:hasAssertion dgn-np:NP488230.RA0E4u1a7KGIPetiHx0aBg8v0vo7AuiD3WlGN3_zVCfRQ130_assertion; np:hasProvenance dgn-np:NP488230.RA0E4u1a7KGIPetiHx0aBg8v0vo7AuiD3WlGN3_zVCfRQ130_provenance; np:hasPublicationInfo dgn-np:NP488230.RA0E4u1a7KGIPetiHx0aBg8v0vo7AuiD3WlGN3_zVCfRQ130_publicationInfo; a np:Nanopublication . dgn-np:NP488230.RA0E4u1a7KGIPetiHx0aBg8v0vo7AuiD3WlGN3_zVCfRQ130_assertion a np:Assertion . dgn-np:NP488230.RA0E4u1a7KGIPetiHx0aBg8v0vo7AuiD3WlGN3_zVCfRQ130_provenance a np:Provenance . dgn-np:NP488230.RA0E4u1a7KGIPetiHx0aBg8v0vo7AuiD3WlGN3_zVCfRQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP488230.RA0E4u1a7KGIPetiHx0aBg8v0vo7AuiD3WlGN3_zVCfRQ130_assertion { miriam-gene:3075 a ncit:C16612 . lld:C0730295 a ncit:C7057 . dgn-gda:DGNd780ad49072e7adf88b7e352599ce942 sio:SIO_000628 miriam-gene:3075, lld:C0730295; a sio:SIO_001121 . } dgn-np:NP488230.RA0E4u1a7KGIPetiHx0aBg8v0vo7AuiD3WlGN3_zVCfRQ130_provenance { dgn-np:NP488230.RA0E4u1a7KGIPetiHx0aBg8v0vo7AuiD3WlGN3_zVCfRQ130_assertion dcterms:description "[Our findings strongly suggest that monogenic inheritance of CFH variants can result in basal laminar drusen in young adults, and this can progress to maculopathy and severe vision loss later in life.]. 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:18252232; 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:NP488230.RA0E4u1a7KGIPetiHx0aBg8v0vo7AuiD3WlGN3_zVCfRQ130_publicationInfo { this: dcterms:created "2014-10-02T12:36:52+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" . }