@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:NP316143.RAtVq10matw4djBDBoK5i8_WxlYLgDwUwEsB4-PaBa92Q130_head { this: np:hasAssertion dgn-np:NP316143.RAtVq10matw4djBDBoK5i8_WxlYLgDwUwEsB4-PaBa92Q130_assertion; np:hasProvenance dgn-np:NP316143.RAtVq10matw4djBDBoK5i8_WxlYLgDwUwEsB4-PaBa92Q130_provenance; np:hasPublicationInfo dgn-np:NP316143.RAtVq10matw4djBDBoK5i8_WxlYLgDwUwEsB4-PaBa92Q130_publicationInfo; a np:Nanopublication . dgn-np:NP316143.RAtVq10matw4djBDBoK5i8_WxlYLgDwUwEsB4-PaBa92Q130_assertion a np:Assertion . dgn-np:NP316143.RAtVq10matw4djBDBoK5i8_WxlYLgDwUwEsB4-PaBa92Q130_provenance a np:Provenance . dgn-np:NP316143.RAtVq10matw4djBDBoK5i8_WxlYLgDwUwEsB4-PaBa92Q130_publicationInfo a np:PublicationInfo . } dgn-np:NP316143.RAtVq10matw4djBDBoK5i8_WxlYLgDwUwEsB4-PaBa92Q130_assertion { miriam-gene:1201 a ncit:C16612 . lld:C3665346 a ncit:C7057 . dgn-gda:DGN1fb027e26bd8d13e94538033d54b7b59 sio:SIO_000628 miriam-gene:1201, lld:C3665346; a sio:SIO_001121 . } dgn-np:NP316143.RAtVq10matw4djBDBoK5i8_WxlYLgDwUwEsB4-PaBa92Q130_provenance { dgn-np:NP316143.RAtVq10matw4djBDBoK5i8_WxlYLgDwUwEsB4-PaBa92Q130_assertion dcterms:description "[The juvenile form of the disease (onset age 4-8 years with visual loss) is usually caused by mutations in the CLN3 gene, but some cases have been shown to be due to specific mutations in the CLN1 or CLN2 genes, which are usually associated with NCL with onset in infancy or late infancy, respectively.]. 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:16720047; 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:NP316143.RAtVq10matw4djBDBoK5i8_WxlYLgDwUwEsB4-PaBa92Q130_publicationInfo { this: dcterms:created "2015-08-25T14:40:41+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" . }