@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:NP639372.RAFiLzGJwnT3YjSZpgXKU3EQtktw14wR-PI7x2gq8FWeo130_head { this: np:hasAssertion dgn-np:NP639372.RAFiLzGJwnT3YjSZpgXKU3EQtktw14wR-PI7x2gq8FWeo130_assertion; np:hasProvenance dgn-np:NP639372.RAFiLzGJwnT3YjSZpgXKU3EQtktw14wR-PI7x2gq8FWeo130_provenance; np:hasPublicationInfo dgn-np:NP639372.RAFiLzGJwnT3YjSZpgXKU3EQtktw14wR-PI7x2gq8FWeo130_publicationInfo; a np:Nanopublication . dgn-np:NP639372.RAFiLzGJwnT3YjSZpgXKU3EQtktw14wR-PI7x2gq8FWeo130_assertion a np:Assertion . dgn-np:NP639372.RAFiLzGJwnT3YjSZpgXKU3EQtktw14wR-PI7x2gq8FWeo130_provenance a np:Provenance . dgn-np:NP639372.RAFiLzGJwnT3YjSZpgXKU3EQtktw14wR-PI7x2gq8FWeo130_publicationInfo a np:PublicationInfo . } dgn-np:NP639372.RAFiLzGJwnT3YjSZpgXKU3EQtktw14wR-PI7x2gq8FWeo130_assertion { miriam-gene:5538 a ncit:C16612 . lld:C0524851 a ncit:C7057 . dgn-gda:DGN5fb44607f2f1df2fc305b4e71354c15a sio:SIO_000628 miriam-gene:5538, lld:C0524851; a sio:SIO_001121 . } dgn-np:NP639372.RAFiLzGJwnT3YjSZpgXKU3EQtktw14wR-PI7x2gq8FWeo130_provenance { dgn-np:NP639372.RAFiLzGJwnT3YjSZpgXKU3EQtktw14wR-PI7x2gq8FWeo130_assertion dcterms:description "[The neuronal ceroid lipofuscinoses (NCL) are a relatively frequent group of progressive neurodegenerative disorders in children with similar, but not identical, clinical and morphological features, entailing different clinical groups, some of which have been found to represent different genetic entities, ie, infantile (INCL) or CLN1, late-infantile (LINCL) or CLN2, juvenile (JNCL) or CLN3, and a Finnish variant of LINCL or CLN5.]. 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:8969009; 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:NP639372.RAFiLzGJwnT3YjSZpgXKU3EQtktw14wR-PI7x2gq8FWeo130_publicationInfo { this: dcterms:created "2015-08-25T14:44:03+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" . }