@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:NP930644.RAVZj8jKxgMush9e8g3pvZP5kSZLdEPHVdiUnRCwD4-lg130_head { this: np:hasAssertion dgn-np:NP930644.RAVZj8jKxgMush9e8g3pvZP5kSZLdEPHVdiUnRCwD4-lg130_assertion; np:hasProvenance dgn-np:NP930644.RAVZj8jKxgMush9e8g3pvZP5kSZLdEPHVdiUnRCwD4-lg130_provenance; np:hasPublicationInfo dgn-np:NP930644.RAVZj8jKxgMush9e8g3pvZP5kSZLdEPHVdiUnRCwD4-lg130_publicationInfo; a np:Nanopublication . dgn-np:NP930644.RAVZj8jKxgMush9e8g3pvZP5kSZLdEPHVdiUnRCwD4-lg130_assertion a np:Assertion . dgn-np:NP930644.RAVZj8jKxgMush9e8g3pvZP5kSZLdEPHVdiUnRCwD4-lg130_provenance a np:Provenance . dgn-np:NP930644.RAVZj8jKxgMush9e8g3pvZP5kSZLdEPHVdiUnRCwD4-lg130_publicationInfo a np:PublicationInfo . } dgn-np:NP930644.RAVZj8jKxgMush9e8g3pvZP5kSZLdEPHVdiUnRCwD4-lg130_assertion { miriam-gene:57492 a ncit:C16612 . lld:C3714756 a ncit:C7057 . dgn-gda:DGNb39f2ee1d12a4bcc5ec17837c823e2ff sio:SIO_000628 miriam-gene:57492, lld:C3714756; a sio:SIO_001121 . } dgn-np:NP930644.RAVZj8jKxgMush9e8g3pvZP5kSZLdEPHVdiUnRCwD4-lg130_provenance { dgn-np:NP930644.RAVZj8jKxgMush9e8g3pvZP5kSZLdEPHVdiUnRCwD4-lg130_assertion dcterms:description "[Taken together with published data, these results indicate that haploinsufficiency of the ARID1B gene, which encodes an epigenetic modifier of chromatin structure, is an important cause of CSS and is potentially a common cause of intellectual disability and speech impairment.]. 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:22426309; 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:NP930644.RAVZj8jKxgMush9e8g3pvZP5kSZLdEPHVdiUnRCwD4-lg130_publicationInfo { this: dcterms:created "2015-08-25T14:47:08+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" . }