@prefix orcid: . @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:NP254024.RAt5QGX7lp4i53mQqTKP0BpVeiwLNi23n6CHbr8Nlwr2k130_head { this: np:hasAssertion dgn-np:NP254024.RAt5QGX7lp4i53mQqTKP0BpVeiwLNi23n6CHbr8Nlwr2k130_assertion; np:hasProvenance dgn-np:NP254024.RAt5QGX7lp4i53mQqTKP0BpVeiwLNi23n6CHbr8Nlwr2k130_provenance; np:hasPublicationInfo dgn-np:NP254024.RAt5QGX7lp4i53mQqTKP0BpVeiwLNi23n6CHbr8Nlwr2k130_publicationInfo; a np:Nanopublication . dgn-np:NP254024.RAt5QGX7lp4i53mQqTKP0BpVeiwLNi23n6CHbr8Nlwr2k130_assertion a np:Assertion . dgn-np:NP254024.RAt5QGX7lp4i53mQqTKP0BpVeiwLNi23n6CHbr8Nlwr2k130_provenance a np:Provenance . dgn-np:NP254024.RAt5QGX7lp4i53mQqTKP0BpVeiwLNi23n6CHbr8Nlwr2k130_publicationInfo a np:PublicationInfo . } dgn-np:NP254024.RAt5QGX7lp4i53mQqTKP0BpVeiwLNi23n6CHbr8Nlwr2k130_assertion { miriam-gene:443 a ncit:C16612 . lld:C0206307 a ncit:C7057 . dgn-gda:DGN0d2d8dd9b8c8ac922dbd83d835653840 sio:SIO_000628 miriam-gene:443, lld:C0206307; a sio:SIO_001121 . } dgn-np:NP254024.RAt5QGX7lp4i53mQqTKP0BpVeiwLNi23n6CHbr8Nlwr2k130_provenance { dgn-np:NP254024.RAt5QGX7lp4i53mQqTKP0BpVeiwLNi23n6CHbr8Nlwr2k130_assertion dcterms:description "[Significantly, each of these lower stability mutants are responsible for the more severe phenotypes of CD, while patients with milder forms of CD have aspartoacylase mutants with generally high catalytic activity and with either good thermal or good conformational stability.]. 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:22850825; 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:NP254024.RAt5QGX7lp4i53mQqTKP0BpVeiwLNi23n6CHbr8Nlwr2k130_publicationInfo { this: dcterms:created "2015-08-25T14:40:04+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X, orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654; pav:createdBy orcid:0000-0003-0169-8159; pav:version "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }