@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:NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_head { this: np:hasAssertion dgn-np:NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_assertion; np:hasProvenance dgn-np:NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_provenance; np:hasPublicationInfo dgn-np:NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_publicationInfo; a np:Nanopublication . dgn-np:NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_assertion a np:Assertion . dgn-np:NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_provenance a np:Provenance . dgn-np:NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_publicationInfo a np:PublicationInfo . } dgn-np:NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_assertion { miriam-gene:1471 a ncit:C16612 . lld:C2936349 a ncit:C7057 . dgn-gda:DGN8a8f00f316d4d8470da0139852f4d092 sio:SIO_000628 miriam-gene:1471, lld:C2936349; a sio:SIO_001121 . } dgn-np:NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_provenance { dgn-np:NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_assertion dcterms:description "[A variant of cystatin C lacking the first NH2-terminal residues and having one amino acid substitution at position 68 forms amyloid deposits mainly in the walls of brain arteries, causing fatal strokes in Icelandic patients with familial cerebral hemorrhage secondary to a form of an autosomal dominant amyloidosis.]. 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:2541223; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_publicationInfo { this: dcterms:created "2015-08-25T14:40:52+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }