@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:NP854692.RAl7Fy_jOIZboO-5uEKmwuHbppr6ZE6setXVGIfxcRIKg130_head { this: np:hasAssertion dgn-np:NP854692.RAl7Fy_jOIZboO-5uEKmwuHbppr6ZE6setXVGIfxcRIKg130_assertion; np:hasProvenance dgn-np:NP854692.RAl7Fy_jOIZboO-5uEKmwuHbppr6ZE6setXVGIfxcRIKg130_provenance; np:hasPublicationInfo dgn-np:NP854692.RAl7Fy_jOIZboO-5uEKmwuHbppr6ZE6setXVGIfxcRIKg130_publicationInfo; a np:Nanopublication . dgn-np:NP854692.RAl7Fy_jOIZboO-5uEKmwuHbppr6ZE6setXVGIfxcRIKg130_assertion a np:Assertion . dgn-np:NP854692.RAl7Fy_jOIZboO-5uEKmwuHbppr6ZE6setXVGIfxcRIKg130_provenance a np:Provenance . dgn-np:NP854692.RAl7Fy_jOIZboO-5uEKmwuHbppr6ZE6setXVGIfxcRIKg130_publicationInfo a np:PublicationInfo . } dgn-np:NP854692.RAl7Fy_jOIZboO-5uEKmwuHbppr6ZE6setXVGIfxcRIKg130_assertion { miriam-gene:5621 a ncit:C16612 . lld:C0011265 a ncit:C7057 . dgn-gda:DGNe2504d33791faea26adf93dd13657f97 sio:SIO_000628 miriam-gene:5621, lld:C0011265; a sio:SIO_001121 . } dgn-np:NP854692.RAl7Fy_jOIZboO-5uEKmwuHbppr6ZE6setXVGIfxcRIKg130_provenance { dgn-np:NP854692.RAl7Fy_jOIZboO-5uEKmwuHbppr6ZE6setXVGIfxcRIKg130_assertion dcterms:description "[This case supports the pathogenicity of the T188 PRNP mutation, demonstrates the variability of clinical phenotypes associated with certain mutations, and emphasizes the importance of testing for genetic prion disease in cases of apparently sporadic atypical dementia.]. 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:21107135; 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:NP854692.RAl7Fy_jOIZboO-5uEKmwuHbppr6ZE6setXVGIfxcRIKg130_publicationInfo { this: dcterms:created "2016-05-13T12:48:12+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" . }