@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:NP382632.RAvQjMMs6ji1kBS2tXrMFd97gzPzoETjjyG3hp8_d8Y3k130_head { this: np:hasAssertion dgn-np:NP382632.RAvQjMMs6ji1kBS2tXrMFd97gzPzoETjjyG3hp8_d8Y3k130_assertion; np:hasProvenance dgn-np:NP382632.RAvQjMMs6ji1kBS2tXrMFd97gzPzoETjjyG3hp8_d8Y3k130_provenance; np:hasPublicationInfo dgn-np:NP382632.RAvQjMMs6ji1kBS2tXrMFd97gzPzoETjjyG3hp8_d8Y3k130_publicationInfo; a np:Nanopublication . dgn-np:NP382632.RAvQjMMs6ji1kBS2tXrMFd97gzPzoETjjyG3hp8_d8Y3k130_assertion a np:Assertion . dgn-np:NP382632.RAvQjMMs6ji1kBS2tXrMFd97gzPzoETjjyG3hp8_d8Y3k130_provenance a np:Provenance . dgn-np:NP382632.RAvQjMMs6ji1kBS2tXrMFd97gzPzoETjjyG3hp8_d8Y3k130_publicationInfo a np:PublicationInfo . } dgn-np:NP382632.RAvQjMMs6ji1kBS2tXrMFd97gzPzoETjjyG3hp8_d8Y3k130_assertion { miriam-gene:5956 a ncit:C16612 . lld:C0032339 a ncit:C7057 . dgn-gda:DGN565884f453dc059db1463516b424603e sio:SIO_000628 miriam-gene:5956, lld:C0032339; a sio:SIO_001121 . } dgn-np:NP382632.RAvQjMMs6ji1kBS2tXrMFd97gzPzoETjjyG3hp8_d8Y3k130_provenance { dgn-np:NP382632.RAvQjMMs6ji1kBS2tXrMFd97gzPzoETjjyG3hp8_d8Y3k130_assertion dcterms:description "[Disruption of one copy of the human CREB binding protein (CBP or CREBBP) gene leads to the Rubinstein-Taybi syndrome (RTS), a developmental disorder characterized by retarded growth and mental functions, broad thumbs, broad big toes and typical facial abnormalities.]. 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:12566391; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP382632.RAvQjMMs6ji1kBS2tXrMFd97gzPzoETjjyG3hp8_d8Y3k130_publicationInfo { this: dcterms:created "2016-05-13T12:44:38+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 "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }