@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:NP189367.RAZXVjPPJz0D_pXacxVULN5623j2WdT4ERr482LXyFqwQ130_head { this: np:hasAssertion dgn-np:NP189367.RAZXVjPPJz0D_pXacxVULN5623j2WdT4ERr482LXyFqwQ130_assertion; np:hasProvenance dgn-np:NP189367.RAZXVjPPJz0D_pXacxVULN5623j2WdT4ERr482LXyFqwQ130_provenance; np:hasPublicationInfo dgn-np:NP189367.RAZXVjPPJz0D_pXacxVULN5623j2WdT4ERr482LXyFqwQ130_publicationInfo; a np:Nanopublication . dgn-np:NP189367.RAZXVjPPJz0D_pXacxVULN5623j2WdT4ERr482LXyFqwQ130_assertion a np:Assertion . dgn-np:NP189367.RAZXVjPPJz0D_pXacxVULN5623j2WdT4ERr482LXyFqwQ130_provenance a np:Provenance . dgn-np:NP189367.RAZXVjPPJz0D_pXacxVULN5623j2WdT4ERr482LXyFqwQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP189367.RAZXVjPPJz0D_pXacxVULN5623j2WdT4ERr482LXyFqwQ130_assertion { miriam-gene:10054 a ncit:C16612 . lld:C0543888 a ncit:C7057 . dgn-gda:DGN203dbf876be994f450eb5fd7f1eecba6 sio:SIO_000628 miriam-gene:10054, lld:C0543888; a sio:SIO_001121 . } dgn-np:NP189367.RAZXVjPPJz0D_pXacxVULN5623j2WdT4ERr482LXyFqwQ130_provenance { dgn-np:NP189367.RAZXVjPPJz0D_pXacxVULN5623j2WdT4ERr482LXyFqwQ130_assertion dcterms:description "[This study confirms that ARX is involved in the pathogenesis of cryptogenic early onset epileptic encephalopathy, such as OS, and suggests that the severity of the electroclinical picture is likely to not exclusively correlate with the extent of expansions of the polyalanine tracts, but rather with the functional effect of different pathogenetic mutations.]. 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:21108397; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP189367.RAZXVjPPJz0D_pXacxVULN5623j2WdT4ERr482LXyFqwQ130_publicationInfo { this: dcterms:created "2014-10-02T12:33:44+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" . }