@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:NP264948.RASkOpO_NaLObqGyGrhvqg3romaoHAW4XZ6UAl71zgrD0130_head { this: np:hasAssertion dgn-np:NP264948.RASkOpO_NaLObqGyGrhvqg3romaoHAW4XZ6UAl71zgrD0130_assertion; np:hasProvenance dgn-np:NP264948.RASkOpO_NaLObqGyGrhvqg3romaoHAW4XZ6UAl71zgrD0130_provenance; np:hasPublicationInfo dgn-np:NP264948.RASkOpO_NaLObqGyGrhvqg3romaoHAW4XZ6UAl71zgrD0130_publicationInfo; a np:Nanopublication . dgn-np:NP264948.RASkOpO_NaLObqGyGrhvqg3romaoHAW4XZ6UAl71zgrD0130_assertion a np:Assertion . dgn-np:NP264948.RASkOpO_NaLObqGyGrhvqg3romaoHAW4XZ6UAl71zgrD0130_provenance a np:Provenance . dgn-np:NP264948.RASkOpO_NaLObqGyGrhvqg3romaoHAW4XZ6UAl71zgrD0130_publicationInfo a np:PublicationInfo . } dgn-np:NP264948.RASkOpO_NaLObqGyGrhvqg3romaoHAW4XZ6UAl71zgrD0130_assertion { miriam-gene:7337 a ncit:C16612 . lld:C0162635 a ncit:C7057 . dgn-gda:DGNcd67c347c5082ddf6680bb9e3e3b5365 sio:SIO_000628 miriam-gene:7337, lld:C0162635; a sio:SIO_001121 . } dgn-np:NP264948.RASkOpO_NaLObqGyGrhvqg3romaoHAW4XZ6UAl71zgrD0130_provenance { dgn-np:NP264948.RASkOpO_NaLObqGyGrhvqg3romaoHAW4XZ6UAl71zgrD0130_assertion dcterms:description "[The UBE3A gene, which codes for the enzyme ubiquitin protein ligase involved in protein degradation and processing, has been found to be mutated in many but not all of patients with Angelman syndrome and can be considered a major Angelman candidate gene.]. 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:10514831; 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:NP264948.RASkOpO_NaLObqGyGrhvqg3romaoHAW4XZ6UAl71zgrD0130_publicationInfo { this: dcterms:created "2016-05-13T12:43:46+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" . }