@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:NP831468.RA-VMMI4bfU40t6Ht_tNK2NL8CA3MX87yaFtfUmXxq76o130_head { this: np:hasAssertion dgn-np:NP831468.RA-VMMI4bfU40t6Ht_tNK2NL8CA3MX87yaFtfUmXxq76o130_assertion; np:hasProvenance dgn-np:NP831468.RA-VMMI4bfU40t6Ht_tNK2NL8CA3MX87yaFtfUmXxq76o130_provenance; np:hasPublicationInfo dgn-np:NP831468.RA-VMMI4bfU40t6Ht_tNK2NL8CA3MX87yaFtfUmXxq76o130_publicationInfo; a np:Nanopublication . dgn-np:NP831468.RA-VMMI4bfU40t6Ht_tNK2NL8CA3MX87yaFtfUmXxq76o130_assertion a np:Assertion . dgn-np:NP831468.RA-VMMI4bfU40t6Ht_tNK2NL8CA3MX87yaFtfUmXxq76o130_provenance a np:Provenance . dgn-np:NP831468.RA-VMMI4bfU40t6Ht_tNK2NL8CA3MX87yaFtfUmXxq76o130_publicationInfo a np:PublicationInfo . } dgn-np:NP831468.RA-VMMI4bfU40t6Ht_tNK2NL8CA3MX87yaFtfUmXxq76o130_assertion { miriam-gene:9856 a ncit:C16612 . lld:C0025517 a ncit:C7057 . dgn-gda:DGNe40fbad38ba1c6bc49fd7a0d63ee14b2 sio:SIO_000628 miriam-gene:9856, lld:C0025517; a sio:SIO_001121 . } dgn-np:NP831468.RA-VMMI4bfU40t6Ht_tNK2NL8CA3MX87yaFtfUmXxq76o130_provenance { dgn-np:NP831468.RA-VMMI4bfU40t6Ht_tNK2NL8CA3MX87yaFtfUmXxq76o130_assertion dcterms:description "[Among 14 patients with MAS observed in three centers, 5 had typical cryptogenic myoclonic absence epilepsy (MAE), 2 had MAS associated with other seizure types (1 with signs of a neuronal migration abnormality and 1 with signs of a metabolic disorder), and 7 had MAS, with or without other seizure types, complicating a chromosome abnormality syndrome-2 with trisomy 12p, 4 with Angelman syndrome, and 1 with inv dup (15).]. 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:9637609; 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:NP831468.RA-VMMI4bfU40t6Ht_tNK2NL8CA3MX87yaFtfUmXxq76o130_publicationInfo { this: dcterms:created "2015-08-25T14:46:04+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }