@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:NP749032.RAJGXczXShzmA3zh0u_6zAzyuaYEFaUN4aruS_OdZJkQ0130_head { this: np:hasAssertion dgn-np:NP749032.RAJGXczXShzmA3zh0u_6zAzyuaYEFaUN4aruS_OdZJkQ0130_assertion; np:hasProvenance dgn-np:NP749032.RAJGXczXShzmA3zh0u_6zAzyuaYEFaUN4aruS_OdZJkQ0130_provenance; np:hasPublicationInfo dgn-np:NP749032.RAJGXczXShzmA3zh0u_6zAzyuaYEFaUN4aruS_OdZJkQ0130_publicationInfo; a np:Nanopublication . dgn-np:NP749032.RAJGXczXShzmA3zh0u_6zAzyuaYEFaUN4aruS_OdZJkQ0130_assertion a np:Assertion . dgn-np:NP749032.RAJGXczXShzmA3zh0u_6zAzyuaYEFaUN4aruS_OdZJkQ0130_provenance a np:Provenance . dgn-np:NP749032.RAJGXczXShzmA3zh0u_6zAzyuaYEFaUN4aruS_OdZJkQ0130_publicationInfo a np:PublicationInfo . } dgn-np:NP749032.RAJGXczXShzmA3zh0u_6zAzyuaYEFaUN4aruS_OdZJkQ0130_assertion { miriam-gene:2477 a ncit:C16612 . lld:C0003469 a ncit:C7057 . dgn-gda:DGNced6ba6d2d138e25f7ccf6585e8e9086 sio:SIO_000628 miriam-gene:2477, lld:C0003469; a sio:SIO_001121 . } dgn-np:NP749032.RAJGXczXShzmA3zh0u_6zAzyuaYEFaUN4aruS_OdZJkQ0130_provenance { dgn-np:NP749032.RAJGXczXShzmA3zh0u_6zAzyuaYEFaUN4aruS_OdZJkQ0130_assertion dcterms:description "[Aspects of FXTAS that are modeled well include elevated levels of Fmr1 mRNA, reduced levels of Fmrp, the presence of intranuclear inclusions that develop with age and show similar distributions within neurons, and neuropsychological and cognitive deficits, including poor motor function, impaired memory and evidence of increased anxiety.]. 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:19574928; 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:NP749032.RAJGXczXShzmA3zh0u_6zAzyuaYEFaUN4aruS_OdZJkQ0130_publicationInfo { this: dcterms:created "2016-05-13T12:47:24+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" . }