@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:NP1407576.RAoFcz4KQVbNSjC9Ighu0O0YAC-EUYucCjZMEkoSsAVeA130_head { this: np:hasAssertion dgn-np:NP1407576.RAoFcz4KQVbNSjC9Ighu0O0YAC-EUYucCjZMEkoSsAVeA130_assertion; np:hasProvenance dgn-np:NP1407576.RAoFcz4KQVbNSjC9Ighu0O0YAC-EUYucCjZMEkoSsAVeA130_provenance; np:hasPublicationInfo dgn-np:NP1407576.RAoFcz4KQVbNSjC9Ighu0O0YAC-EUYucCjZMEkoSsAVeA130_publicationInfo; a np:Nanopublication . dgn-np:NP1407576.RAoFcz4KQVbNSjC9Ighu0O0YAC-EUYucCjZMEkoSsAVeA130_assertion a np:Assertion . dgn-np:NP1407576.RAoFcz4KQVbNSjC9Ighu0O0YAC-EUYucCjZMEkoSsAVeA130_provenance a np:Provenance . dgn-np:NP1407576.RAoFcz4KQVbNSjC9Ighu0O0YAC-EUYucCjZMEkoSsAVeA130_publicationInfo a np:PublicationInfo . } dgn-np:NP1407576.RAoFcz4KQVbNSjC9Ighu0O0YAC-EUYucCjZMEkoSsAVeA130_assertion { miriam-gene:1508 a ncit:C16612 . lld:C0027765 a ncit:C7057 . dgn-gda:DGN134ee94e1e9c2632c0435a006a848810 sio:SIO_000628 miriam-gene:1508, lld:C0027765; a sio:SIO_001122 . } dgn-np:NP1407576.RAoFcz4KQVbNSjC9Ighu0O0YAC-EUYucCjZMEkoSsAVeA130_provenance { dgn-np:NP1407576.RAoFcz4KQVbNSjC9Ighu0O0YAC-EUYucCjZMEkoSsAVeA130_assertion dcterms:description "[Loss-of-function mutations in the gene (CSTB) encoding human cystatin B, a widely expressed cysteine protease inhibitor, are responsible for a severe neurological disorder known as Unverricht-Lundborg disease (EPM1).]. 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:9806543; 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:NP1407576.RAoFcz4KQVbNSjC9Ighu0O0YAC-EUYucCjZMEkoSsAVeA130_publicationInfo { this: dcterms:created "2016-05-13T12:52:24+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" . }