@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:NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_head { this: np:hasAssertion dgn-np:NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_assertion; np:hasProvenance dgn-np:NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_provenance; np:hasPublicationInfo dgn-np:NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_publicationInfo; a np:Nanopublication . dgn-np:NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_assertion a np:Assertion . dgn-np:NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_provenance a np:Provenance . dgn-np:NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_publicationInfo a np:PublicationInfo . } dgn-np:NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_assertion { miriam-gene:1387 a ncit:C16612 . lld:C0035372 a ncit:C7057 . dgn-gda:DGN4295170206ca729fd135274cf8d070b2 sio:SIO_000628 miriam-gene:1387, lld:C0035372; a sio:SIO_001121 . } dgn-np:NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_provenance { dgn-np:NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_assertion dcterms:description "[Because the patients are heterozygous for the mutations, we propose that the loss of one functional copy of the CBP gene underlies the developmental abnormalities in RTS and possibly the propensity for malignancy.]. 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:7630403; 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:NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_publicationInfo { this: dcterms:created "2016-05-13T12:51:42+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" . }