http://rdf.disgenet.org/resource/nanopub/NP1196699.RASHenWURSbqpP9Nf7fVXe8cxetLTWdNIHGpprujdonss#head http://rdf.disgenet.org/resource/nanopub/NP1196699.RASHenWURSbqpP9Nf7fVXe8cxetLTWdNIHGpprujdonss http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1196699.RASHenWURSbqpP9Nf7fVXe8cxetLTWdNIHGpprujdonss#assertion http://rdf.disgenet.org/resource/nanopub/NP1196699.RASHenWURSbqpP9Nf7fVXe8cxetLTWdNIHGpprujdonss http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1196699.RASHenWURSbqpP9Nf7fVXe8cxetLTWdNIHGpprujdonss#provenance http://rdf.disgenet.org/resource/nanopub/NP1196699.RASHenWURSbqpP9Nf7fVXe8cxetLTWdNIHGpprujdonss http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1196699.RASHenWURSbqpP9Nf7fVXe8cxetLTWdNIHGpprujdonss#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1196699.RASHenWURSbqpP9Nf7fVXe8cxetLTWdNIHGpprujdonss http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1196699.RASHenWURSbqpP9Nf7fVXe8cxetLTWdNIHGpprujdonss#assertion http://rdf.disgenet.org/resource/gda/DGNcee47c17f02b5bc9c1779c7be4ad942c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/9759 http://rdf.disgenet.org/resource/gda/DGNcee47c17f02b5bc9c1779c7be4ad942c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0557874 http://rdf.disgenet.org/resource/gda/DGNcee47c17f02b5bc9c1779c7be4ad942c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1196699.RASHenWURSbqpP9Nf7fVXe8cxetLTWdNIHGpprujdonss#provenance http://rdf.disgenet.org/resource/nanopub/NP1196699.RASHenWURSbqpP9Nf7fVXe8cxetLTWdNIHGpprujdonss#assertion http://purl.org/dc/terms/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. http://rdf.disgenet.org/resource/nanopub/NP1196699.RASHenWURSbqpP9Nf7fVXe8cxetLTWdNIHGpprujdonss#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1196699.RASHenWURSbqpP9Nf7fVXe8cxetLTWdNIHGpprujdonss#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23188045 http://rdf.disgenet.org/resource/nanopub/NP1196699.RASHenWURSbqpP9Nf7fVXe8cxetLTWdNIHGpprujdonss#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1196699.RASHenWURSbqpP9Nf7fVXe8cxetLTWdNIHGpprujdonss#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1196699.RASHenWURSbqpP9Nf7fVXe8cxetLTWdNIHGpprujdonss#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1196699.RASHenWURSbqpP9Nf7fVXe8cxetLTWdNIHGpprujdonss http://purl.org/dc/terms/created 2017-10-17T13:17:49+02:00 http://rdf.disgenet.org/resource/nanopub/NP1196699.RASHenWURSbqpP9Nf7fVXe8cxetLTWdNIHGpprujdonss http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1196699.RASHenWURSbqpP9Nf7fVXe8cxetLTWdNIHGpprujdonss http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1196699.RASHenWURSbqpP9Nf7fVXe8cxetLTWdNIHGpprujdonss http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1196699.RASHenWURSbqpP9Nf7fVXe8cxetLTWdNIHGpprujdonss http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1196699.RASHenWURSbqpP9Nf7fVXe8cxetLTWdNIHGpprujdonss http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1196699.RASHenWURSbqpP9Nf7fVXe8cxetLTWdNIHGpprujdonss http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1196699.RASHenWURSbqpP9Nf7fVXe8cxetLTWdNIHGpprujdonss http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1196699.RASHenWURSbqpP9Nf7fVXe8cxetLTWdNIHGpprujdonss http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1196699.RASHenWURSbqpP9Nf7fVXe8cxetLTWdNIHGpprujdonss http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1196699.RASHenWURSbqpP9Nf7fVXe8cxetLTWdNIHGpprujdonss http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1196699.RASHenWURSbqpP9Nf7fVXe8cxetLTWdNIHGpprujdonss http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0