http://rdf.disgenet.org/resource/nanopub/NP719398.RAP_OFVVOB63NBMpMX9Sew3P2cfff7IFMj1eO-45UHGOU130_head http://rdf.disgenet.org/resource/nanopub/NP719398.RAP_OFVVOB63NBMpMX9Sew3P2cfff7IFMj1eO-45UHGOU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP719398.RAP_OFVVOB63NBMpMX9Sew3P2cfff7IFMj1eO-45UHGOU130_assertion http://rdf.disgenet.org/resource/nanopub/NP719398.RAP_OFVVOB63NBMpMX9Sew3P2cfff7IFMj1eO-45UHGOU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP719398.RAP_OFVVOB63NBMpMX9Sew3P2cfff7IFMj1eO-45UHGOU130_provenance http://rdf.disgenet.org/resource/nanopub/NP719398.RAP_OFVVOB63NBMpMX9Sew3P2cfff7IFMj1eO-45UHGOU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP719398.RAP_OFVVOB63NBMpMX9Sew3P2cfff7IFMj1eO-45UHGOU130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP719398.RAP_OFVVOB63NBMpMX9Sew3P2cfff7IFMj1eO-45UHGOU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP719398.RAP_OFVVOB63NBMpMX9Sew3P2cfff7IFMj1eO-45UHGOU130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP719398.RAP_OFVVOB63NBMpMX9Sew3P2cfff7IFMj1eO-45UHGOU130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP719398.RAP_OFVVOB63NBMpMX9Sew3P2cfff7IFMj1eO-45UHGOU130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP719398.RAP_OFVVOB63NBMpMX9Sew3P2cfff7IFMj1eO-45UHGOU130_assertion http://identifiers.org/ncbigene/6792 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C2748910 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGN530dbd41079105bb78f3620d1811490a http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6792 http://rdf.disgenet.org/resource/gda/DGN530dbd41079105bb78f3620d1811490a http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2748910 http://rdf.disgenet.org/resource/gda/DGN530dbd41079105bb78f3620d1811490a http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP719398.RAP_OFVVOB63NBMpMX9Sew3P2cfff7IFMj1eO-45UHGOU130_provenance http://rdf.disgenet.org/resource/nanopub/NP719398.RAP_OFVVOB63NBMpMX9Sew3P2cfff7IFMj1eO-45UHGOU130_assertion http://purl.org/dc/terms/description [We screened the entire coding region of CDKL5 in 151 affected girls with a clinically heterogeneous phenotype ranging from encephalopathy with epilepsy to atypical Rett syndrome by denaturing high liquid performance chromatography and direct sequencing, and we identified three novel missense mutations located in catalytic domain (p.Ala40Val, p.Arg65Gln, p.Leu220Pro).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP719398.RAP_OFVVOB63NBMpMX9Sew3P2cfff7IFMj1eO-45UHGOU130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP719398.RAP_OFVVOB63NBMpMX9Sew3P2cfff7IFMj1eO-45UHGOU130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17993579 http://rdf.disgenet.org/resource/nanopub/NP719398.RAP_OFVVOB63NBMpMX9Sew3P2cfff7IFMj1eO-45UHGOU130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP719398.RAP_OFVVOB63NBMpMX9Sew3P2cfff7IFMj1eO-45UHGOU130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP719398.RAP_OFVVOB63NBMpMX9Sew3P2cfff7IFMj1eO-45UHGOU130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP719398.RAP_OFVVOB63NBMpMX9Sew3P2cfff7IFMj1eO-45UHGOU http://purl.org/dc/terms/created 2015-08-25T14:44:54+02:00 http://rdf.disgenet.org/resource/nanopub/NP719398.RAP_OFVVOB63NBMpMX9Sew3P2cfff7IFMj1eO-45UHGOU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP719398.RAP_OFVVOB63NBMpMX9Sew3P2cfff7IFMj1eO-45UHGOU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP719398.RAP_OFVVOB63NBMpMX9Sew3P2cfff7IFMj1eO-45UHGOU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP719398.RAP_OFVVOB63NBMpMX9Sew3P2cfff7IFMj1eO-45UHGOU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP719398.RAP_OFVVOB63NBMpMX9Sew3P2cfff7IFMj1eO-45UHGOU http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP719398.RAP_OFVVOB63NBMpMX9Sew3P2cfff7IFMj1eO-45UHGOU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP719398.RAP_OFVVOB63NBMpMX9Sew3P2cfff7IFMj1eO-45UHGOU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP719398.RAP_OFVVOB63NBMpMX9Sew3P2cfff7IFMj1eO-45UHGOU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP719398.RAP_OFVVOB63NBMpMX9Sew3P2cfff7IFMj1eO-45UHGOU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP719398.RAP_OFVVOB63NBMpMX9Sew3P2cfff7IFMj1eO-45UHGOU http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP719398.RAP_OFVVOB63NBMpMX9Sew3P2cfff7IFMj1eO-45UHGOU http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0