@prefix dc: . @prefix orcid: . @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 np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP807002.RAEULF2snokmTyvG-cSQP6lPJBJH0aMA8FbgdIyQhTCz8130_head { this: np:hasAssertion dgn-np:NP807002.RAEULF2snokmTyvG-cSQP6lPJBJH0aMA8FbgdIyQhTCz8130_assertion; np:hasProvenance dgn-np:NP807002.RAEULF2snokmTyvG-cSQP6lPJBJH0aMA8FbgdIyQhTCz8130_provenance; np:hasPublicationInfo dgn-np:NP807002.RAEULF2snokmTyvG-cSQP6lPJBJH0aMA8FbgdIyQhTCz8130_publicationInfo; a np:Nanopublication . dgn-np:NP807002.RAEULF2snokmTyvG-cSQP6lPJBJH0aMA8FbgdIyQhTCz8130_assertion a np:Assertion . dgn-np:NP807002.RAEULF2snokmTyvG-cSQP6lPJBJH0aMA8FbgdIyQhTCz8130_provenance a np:Provenance . dgn-np:NP807002.RAEULF2snokmTyvG-cSQP6lPJBJH0aMA8FbgdIyQhTCz8130_publicationInfo a np:PublicationInfo . } dgn-np:NP807002.RAEULF2snokmTyvG-cSQP6lPJBJH0aMA8FbgdIyQhTCz8130_assertion { miriam-gene:5538 a ncit:C16612 . lld:C1864923 a ncit:C7057 . dgn-gda:DGN33c3d8e9694f911fe65eed7f115491d9 sio:SIO_000628 miriam-gene:5538, lld:C1864923; a sio:SIO_001121 . } dgn-np:NP807002.RAEULF2snokmTyvG-cSQP6lPJBJH0aMA8FbgdIyQhTCz8130_provenance { dgn-np:NP807002.RAEULF2snokmTyvG-cSQP6lPJBJH0aMA8FbgdIyQhTCz8130_assertion dc:description "[The NCLs include eight forms that result from genetic deficiency on genes CLN(1) to CLN(8), respectively: four classic forms with clinical onset at varying ages-infantile (INCL), late-infantile (LINCL), juvenile (JNCL), and adult (ANCL)-and four variants of late-infantile onset-the Finnish variant LINCL (fLINCL), Portuguese variant LINCL (pLINCL), Turkish variant LINCL (tLINCL), and progressive epilepsy with mental retardation (EPMR).]. 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:11001811; 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:NP807002.RAEULF2snokmTyvG-cSQP6lPJBJH0aMA8FbgdIyQhTCz8130_publicationInfo { this: dc:created "2014-10-02T12:40:15+02:00"^^xsd:dateTime; dc:rights ; dc:rightsHolder dgn-void:IBIGroup; dc:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X, orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654; pav:createdBy orcid:0000-0003-0169-8159; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }