http://rdf.disgenet.org/resource/nanopub/NP1423548.RAazOBaja9HHuTf_y8T43s1IV2TpbGjbEwqqddhscIysQ#head http://rdf.disgenet.org/resource/nanopub/NP1423548.RAazOBaja9HHuTf_y8T43s1IV2TpbGjbEwqqddhscIysQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1423548.RAazOBaja9HHuTf_y8T43s1IV2TpbGjbEwqqddhscIysQ#assertion http://rdf.disgenet.org/resource/nanopub/NP1423548.RAazOBaja9HHuTf_y8T43s1IV2TpbGjbEwqqddhscIysQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1423548.RAazOBaja9HHuTf_y8T43s1IV2TpbGjbEwqqddhscIysQ#provenance http://rdf.disgenet.org/resource/nanopub/NP1423548.RAazOBaja9HHuTf_y8T43s1IV2TpbGjbEwqqddhscIysQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1423548.RAazOBaja9HHuTf_y8T43s1IV2TpbGjbEwqqddhscIysQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1423548.RAazOBaja9HHuTf_y8T43s1IV2TpbGjbEwqqddhscIysQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1423548.RAazOBaja9HHuTf_y8T43s1IV2TpbGjbEwqqddhscIysQ#assertion http://rdf.disgenet.org/resource/gda/DGN895c73cbee7cececd1cfe136078f963a http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/284058 http://rdf.disgenet.org/resource/gda/DGN895c73cbee7cececd1cfe136078f963a http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3714756 http://rdf.disgenet.org/resource/gda/DGN895c73cbee7cececd1cfe136078f963a http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1423548.RAazOBaja9HHuTf_y8T43s1IV2TpbGjbEwqqddhscIysQ#provenance http://rdf.disgenet.org/resource/nanopub/NP1423548.RAazOBaja9HHuTf_y8T43s1IV2TpbGjbEwqqddhscIysQ#assertion http://purl.org/dc/terms/description [KANSL1 gene expression studies and comparative clinical analysis of patients with 17q21.31 deletions and intragenic KANSL1 gene defects indicate that KANSL1 dysfunction is associated with the full spectrum of the 17q21.31 microdeletion syndrome, which includes characteristic facial features, hypotonia, intellectual disability, and structural defects of the brain, heart and genitourinary system, as well as, musculoskeletal and neuroectodermal anomalies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1423548.RAazOBaja9HHuTf_y8T43s1IV2TpbGjbEwqqddhscIysQ#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/NP1423548.RAazOBaja9HHuTf_y8T43s1IV2TpbGjbEwqqddhscIysQ#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/26293599 http://rdf.disgenet.org/resource/nanopub/NP1423548.RAazOBaja9HHuTf_y8T43s1IV2TpbGjbEwqqddhscIysQ#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1423548.RAazOBaja9HHuTf_y8T43s1IV2TpbGjbEwqqddhscIysQ#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/NP1423548.RAazOBaja9HHuTf_y8T43s1IV2TpbGjbEwqqddhscIysQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1423548.RAazOBaja9HHuTf_y8T43s1IV2TpbGjbEwqqddhscIysQ http://purl.org/dc/terms/created 2017-10-17T13:19:13+02:00 http://rdf.disgenet.org/resource/nanopub/NP1423548.RAazOBaja9HHuTf_y8T43s1IV2TpbGjbEwqqddhscIysQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1423548.RAazOBaja9HHuTf_y8T43s1IV2TpbGjbEwqqddhscIysQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1423548.RAazOBaja9HHuTf_y8T43s1IV2TpbGjbEwqqddhscIysQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1423548.RAazOBaja9HHuTf_y8T43s1IV2TpbGjbEwqqddhscIysQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1423548.RAazOBaja9HHuTf_y8T43s1IV2TpbGjbEwqqddhscIysQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1423548.RAazOBaja9HHuTf_y8T43s1IV2TpbGjbEwqqddhscIysQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1423548.RAazOBaja9HHuTf_y8T43s1IV2TpbGjbEwqqddhscIysQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1423548.RAazOBaja9HHuTf_y8T43s1IV2TpbGjbEwqqddhscIysQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1423548.RAazOBaja9HHuTf_y8T43s1IV2TpbGjbEwqqddhscIysQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1423548.RAazOBaja9HHuTf_y8T43s1IV2TpbGjbEwqqddhscIysQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1423548.RAazOBaja9HHuTf_y8T43s1IV2TpbGjbEwqqddhscIysQ 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