@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:NP377803.RAOnT3bP3oSKpFKtcuEc8fKohPPTa1a2IC6TlHjLpoHo0130_head { this: np:hasAssertion dgn-np:NP377803.RAOnT3bP3oSKpFKtcuEc8fKohPPTa1a2IC6TlHjLpoHo0130_assertion; np:hasProvenance dgn-np:NP377803.RAOnT3bP3oSKpFKtcuEc8fKohPPTa1a2IC6TlHjLpoHo0130_provenance; np:hasPublicationInfo dgn-np:NP377803.RAOnT3bP3oSKpFKtcuEc8fKohPPTa1a2IC6TlHjLpoHo0130_publicationInfo; a np:Nanopublication . dgn-np:NP377803.RAOnT3bP3oSKpFKtcuEc8fKohPPTa1a2IC6TlHjLpoHo0130_assertion a np:Assertion . dgn-np:NP377803.RAOnT3bP3oSKpFKtcuEc8fKohPPTa1a2IC6TlHjLpoHo0130_provenance a np:Provenance . dgn-np:NP377803.RAOnT3bP3oSKpFKtcuEc8fKohPPTa1a2IC6TlHjLpoHo0130_publicationInfo a np:PublicationInfo . } dgn-np:NP377803.RAOnT3bP3oSKpFKtcuEc8fKohPPTa1a2IC6TlHjLpoHo0130_assertion { miriam-gene:9759 a ncit:C16612 . lld:C1838126 a ncit:C7057 . dgn-gda:DGN4bf7805a9b60da7ecf92e469a547a2d9 sio:SIO_000628 miriam-gene:9759, lld:C1838126; a sio:SIO_001121 . } dgn-np:NP377803.RAOnT3bP3oSKpFKtcuEc8fKohPPTa1a2IC6TlHjLpoHo0130_provenance { dgn-np:NP377803.RAOnT3bP3oSKpFKtcuEc8fKohPPTa1a2IC6TlHjLpoHo0130_assertion dcterms:description "[Recently, histone deacetylase 4 (HDAC4) haploinsufficiency has been postulated to be the critical genetic mechanism responsible for the main clinical characteristics of the BDMR syndrome like developmental delay and behavioural abnormalities in combination with brachydactyly type E (BDE).]. 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:23188045; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP377803.RAOnT3bP3oSKpFKtcuEc8fKohPPTa1a2IC6TlHjLpoHo0130_publicationInfo { this: dcterms:created "2014-10-02T12:35:41+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }