@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:NP258967.RA9kxzLriHLfeJ-VhLUJ1pwn8ugH2wooAiz3UOC0XIbr8130_head { this: np:hasAssertion dgn-np:NP258967.RA9kxzLriHLfeJ-VhLUJ1pwn8ugH2wooAiz3UOC0XIbr8130_assertion; np:hasProvenance dgn-np:NP258967.RA9kxzLriHLfeJ-VhLUJ1pwn8ugH2wooAiz3UOC0XIbr8130_provenance; np:hasPublicationInfo dgn-np:NP258967.RA9kxzLriHLfeJ-VhLUJ1pwn8ugH2wooAiz3UOC0XIbr8130_publicationInfo; a np:Nanopublication . dgn-np:NP258967.RA9kxzLriHLfeJ-VhLUJ1pwn8ugH2wooAiz3UOC0XIbr8130_assertion a np:Assertion . dgn-np:NP258967.RA9kxzLriHLfeJ-VhLUJ1pwn8ugH2wooAiz3UOC0XIbr8130_provenance a np:Provenance . dgn-np:NP258967.RA9kxzLriHLfeJ-VhLUJ1pwn8ugH2wooAiz3UOC0XIbr8130_publicationInfo a np:PublicationInfo . } dgn-np:NP258967.RA9kxzLriHLfeJ-VhLUJ1pwn8ugH2wooAiz3UOC0XIbr8130_assertion { miriam-gene:1200 a ncit:C16612 . lld:C0027877 a ncit:C7057 . dgn-gda:DGN366b75e372755c0a3d04258018a969f4 sio:SIO_000628 miriam-gene:1200, lld:C0027877; a sio:SIO_001121 . } dgn-np:NP258967.RA9kxzLriHLfeJ-VhLUJ1pwn8ugH2wooAiz3UOC0XIbr8130_provenance { dgn-np:NP258967.RA9kxzLriHLfeJ-VhLUJ1pwn8ugH2wooAiz3UOC0XIbr8130_assertion dcterms:description "[A survey of fibroblasts and lymphoblasts demonstrated that lack of activity was associated with LINCL arising from mutations in the CLN2 gene but not other neuronal ceroid lipofuscinoses (NCLs), including the CLN6 variant LINCL, classical infantile NCL, classical juvenile NCL, and adult NCL (Kufs' disease).]. 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:10428067; 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:NP258967.RA9kxzLriHLfeJ-VhLUJ1pwn8ugH2wooAiz3UOC0XIbr8130_publicationInfo { this: dcterms:created "2016-05-13T12:43:43+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" . }