@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:NP404325.RAQLoCWfWFrCXaFyQhcQVb4oey1FvrDjmhfJcykvfxwhM130_head { this: np:hasAssertion dgn-np:NP404325.RAQLoCWfWFrCXaFyQhcQVb4oey1FvrDjmhfJcykvfxwhM130_assertion; np:hasProvenance dgn-np:NP404325.RAQLoCWfWFrCXaFyQhcQVb4oey1FvrDjmhfJcykvfxwhM130_provenance; np:hasPublicationInfo dgn-np:NP404325.RAQLoCWfWFrCXaFyQhcQVb4oey1FvrDjmhfJcykvfxwhM130_publicationInfo; a np:Nanopublication . dgn-np:NP404325.RAQLoCWfWFrCXaFyQhcQVb4oey1FvrDjmhfJcykvfxwhM130_assertion a np:Assertion . dgn-np:NP404325.RAQLoCWfWFrCXaFyQhcQVb4oey1FvrDjmhfJcykvfxwhM130_provenance a np:Provenance . dgn-np:NP404325.RAQLoCWfWFrCXaFyQhcQVb4oey1FvrDjmhfJcykvfxwhM130_publicationInfo a np:PublicationInfo . } dgn-np:NP404325.RAQLoCWfWFrCXaFyQhcQVb4oey1FvrDjmhfJcykvfxwhM130_assertion { miriam-gene:2290 a ncit:C16612 . lld:C0035372 a ncit:C7057 . dgn-gda:DGN89eefc7f2e84b6919934e803e846ae9c sio:SIO_000628 miriam-gene:2290, lld:C0035372; a sio:SIO_001121 . } dgn-np:NP404325.RAQLoCWfWFrCXaFyQhcQVb4oey1FvrDjmhfJcykvfxwhM130_provenance { dgn-np:NP404325.RAQLoCWfWFrCXaFyQhcQVb4oey1FvrDjmhfJcykvfxwhM130_assertion dcterms:description "[The systematic screening of Rett syndrome (RTT) patients for pathogenetic sequence variations has focused on three genes that have been associated with RTT or related clinical phenotypes, namely MECP2, CDKL5, and FOXG1.]. 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:22383159; 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:NP404325.RAQLoCWfWFrCXaFyQhcQVb4oey1FvrDjmhfJcykvfxwhM130_publicationInfo { this: dcterms:created "2015-08-25T14:41:35+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" . }