@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:NP552115.RAUK-Z10mg_UdhOqt05WVUuxfBJcya1LUW9VpgcZsbp7w130_head { this: np:hasAssertion dgn-np:NP552115.RAUK-Z10mg_UdhOqt05WVUuxfBJcya1LUW9VpgcZsbp7w130_assertion; np:hasProvenance dgn-np:NP552115.RAUK-Z10mg_UdhOqt05WVUuxfBJcya1LUW9VpgcZsbp7w130_provenance; np:hasPublicationInfo dgn-np:NP552115.RAUK-Z10mg_UdhOqt05WVUuxfBJcya1LUW9VpgcZsbp7w130_publicationInfo; a np:Nanopublication . dgn-np:NP552115.RAUK-Z10mg_UdhOqt05WVUuxfBJcya1LUW9VpgcZsbp7w130_assertion a np:Assertion . dgn-np:NP552115.RAUK-Z10mg_UdhOqt05WVUuxfBJcya1LUW9VpgcZsbp7w130_provenance a np:Provenance . dgn-np:NP552115.RAUK-Z10mg_UdhOqt05WVUuxfBJcya1LUW9VpgcZsbp7w130_publicationInfo a np:PublicationInfo . } dgn-np:NP552115.RAUK-Z10mg_UdhOqt05WVUuxfBJcya1LUW9VpgcZsbp7w130_assertion { miriam-gene:4204 a ncit:C16612 . lld:C0543888 a ncit:C7057 . dgn-gda:DGNe4c2724bb98f11658de384796832ac45 sio:SIO_000628 miriam-gene:4204, lld:C0543888; a sio:SIO_001121 . } dgn-np:NP552115.RAUK-Z10mg_UdhOqt05WVUuxfBJcya1LUW9VpgcZsbp7w130_provenance { dgn-np:NP552115.RAUK-Z10mg_UdhOqt05WVUuxfBJcya1LUW9VpgcZsbp7w130_assertion dcterms:description "[Our report suggests that the clinical features associated with CDKL5 deletions could be implicated in Japanese patients, and that genetic testing of CDKL5, including both sequencing and deletion analyses, should be considered in girls with early-onset epileptic encephalopathy and RTT-like features.]. 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:21802232; 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:NP552115.RAUK-Z10mg_UdhOqt05WVUuxfBJcya1LUW9VpgcZsbp7w130_publicationInfo { this: dcterms:created "2015-08-25T14:43:07+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" . }