@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:NP251857.RA5RHo69FvoYpl362JWGA1AmoMpc2hci2x4e0h7TiNWCc130_head { this: np:hasAssertion dgn-np:NP251857.RA5RHo69FvoYpl362JWGA1AmoMpc2hci2x4e0h7TiNWCc130_assertion; np:hasProvenance dgn-np:NP251857.RA5RHo69FvoYpl362JWGA1AmoMpc2hci2x4e0h7TiNWCc130_provenance; np:hasPublicationInfo dgn-np:NP251857.RA5RHo69FvoYpl362JWGA1AmoMpc2hci2x4e0h7TiNWCc130_publicationInfo; a np:Nanopublication . dgn-np:NP251857.RA5RHo69FvoYpl362JWGA1AmoMpc2hci2x4e0h7TiNWCc130_assertion a np:Assertion . dgn-np:NP251857.RA5RHo69FvoYpl362JWGA1AmoMpc2hci2x4e0h7TiNWCc130_provenance a np:Provenance . dgn-np:NP251857.RA5RHo69FvoYpl362JWGA1AmoMpc2hci2x4e0h7TiNWCc130_publicationInfo a np:PublicationInfo . } dgn-np:NP251857.RA5RHo69FvoYpl362JWGA1AmoMpc2hci2x4e0h7TiNWCc130_assertion { miriam-gene:5538 a ncit:C16612 . lld:C0027877 a ncit:C7057 . dgn-gda:DGN14e6c50d2bfee71efaed4b7b6a4304fd sio:SIO_000628 miriam-gene:5538, lld:C0027877; a sio:SIO_001121 . } dgn-np:NP251857.RA5RHo69FvoYpl362JWGA1AmoMpc2hci2x4e0h7TiNWCc130_provenance { dgn-np:NP251857.RA5RHo69FvoYpl362JWGA1AmoMpc2hci2x4e0h7TiNWCc130_assertion dcterms:description "[Since many retinal and brain proteins are highly palmitoylated and depalmitoylation by PPT is essential for their effective recycling in the lysosomes, our results raise the possibility that inactivating mutations of the PPT gene, as occur in INCL, are likely to cause cellular accumulation of lipid-modified proteins in the retina earlier than in the brain.]. 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:10231585; 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:NP251857.RA5RHo69FvoYpl362JWGA1AmoMpc2hci2x4e0h7TiNWCc130_publicationInfo { this: dcterms:created "2016-05-13T12:43:40+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" . }