@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:NP152481.RArTqXIdeTaTwhDO-9To9w80diodE32zTwqOuLOKnDiyw130_head { this: np:hasAssertion dgn-np:NP152481.RArTqXIdeTaTwhDO-9To9w80diodE32zTwqOuLOKnDiyw130_assertion; np:hasProvenance dgn-np:NP152481.RArTqXIdeTaTwhDO-9To9w80diodE32zTwqOuLOKnDiyw130_provenance; np:hasPublicationInfo dgn-np:NP152481.RArTqXIdeTaTwhDO-9To9w80diodE32zTwqOuLOKnDiyw130_publicationInfo; a np:Nanopublication . dgn-np:NP152481.RArTqXIdeTaTwhDO-9To9w80diodE32zTwqOuLOKnDiyw130_assertion a np:Assertion . dgn-np:NP152481.RArTqXIdeTaTwhDO-9To9w80diodE32zTwqOuLOKnDiyw130_provenance a np:Provenance . dgn-np:NP152481.RArTqXIdeTaTwhDO-9To9w80diodE32zTwqOuLOKnDiyw130_publicationInfo a np:PublicationInfo . } dgn-np:NP152481.RArTqXIdeTaTwhDO-9To9w80diodE32zTwqOuLOKnDiyw130_assertion { miriam-gene:3425 a ncit:C16612 . lld:C0023786 a ncit:C7057 . dgn-gda:DGN3fd1f78d2b60df3adb1641b021703bbc sio:SIO_000628 miriam-gene:3425, lld:C0023786; a sio:SIO_001122 . } dgn-np:NP152481.RArTqXIdeTaTwhDO-9To9w80diodE32zTwqOuLOKnDiyw130_provenance { dgn-np:NP152481.RArTqXIdeTaTwhDO-9To9w80diodE32zTwqOuLOKnDiyw130_assertion dcterms:description "[Model provides insights into why certain point mutations produce misfolded proteins and lead to severe mucopolysaccharidosis I, while other mutations produce proteins with minor structural perturbations and therefore the attenuated form of the 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:15862278; prov:wasDerivedFrom dgn-void:lhgdn-20090331; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:lhgdn-20090331 pav:importedOn "2009-03-31"^^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:NP152481.RArTqXIdeTaTwhDO-9To9w80diodE32zTwqOuLOKnDiyw130_publicationInfo { this: dcterms:created "2014-10-02T12:33:21+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }