http://rdf.disgenet.org/resource/nanopub/NP990505.RAnd7_gBCmUMECNwdL9bzqBqsszoe4pv9msmGoD6R73tQ#head http://rdf.disgenet.org/resource/nanopub/NP990505.RAnd7_gBCmUMECNwdL9bzqBqsszoe4pv9msmGoD6R73tQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP990505.RAnd7_gBCmUMECNwdL9bzqBqsszoe4pv9msmGoD6R73tQ#assertion http://rdf.disgenet.org/resource/nanopub/NP990505.RAnd7_gBCmUMECNwdL9bzqBqsszoe4pv9msmGoD6R73tQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP990505.RAnd7_gBCmUMECNwdL9bzqBqsszoe4pv9msmGoD6R73tQ#provenance http://rdf.disgenet.org/resource/nanopub/NP990505.RAnd7_gBCmUMECNwdL9bzqBqsszoe4pv9msmGoD6R73tQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP990505.RAnd7_gBCmUMECNwdL9bzqBqsszoe4pv9msmGoD6R73tQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP990505.RAnd7_gBCmUMECNwdL9bzqBqsszoe4pv9msmGoD6R73tQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP990505.RAnd7_gBCmUMECNwdL9bzqBqsszoe4pv9msmGoD6R73tQ#assertion http://rdf.disgenet.org/resource/gda/DGNfe526fb993064e5ddfcc31cc3087854a http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6792 http://rdf.disgenet.org/resource/gda/DGNfe526fb993064e5ddfcc31cc3087854a http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2748910 http://rdf.disgenet.org/resource/gda/DGNfe526fb993064e5ddfcc31cc3087854a http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP990505.RAnd7_gBCmUMECNwdL9bzqBqsszoe4pv9msmGoD6R73tQ#provenance http://rdf.disgenet.org/resource/nanopub/NP990505.RAnd7_gBCmUMECNwdL9bzqBqsszoe4pv9msmGoD6R73tQ#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/NP990505.RAnd7_gBCmUMECNwdL9bzqBqsszoe4pv9msmGoD6R73tQ#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/NP990505.RAnd7_gBCmUMECNwdL9bzqBqsszoe4pv9msmGoD6R73tQ#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17993579 http://rdf.disgenet.org/resource/nanopub/NP990505.RAnd7_gBCmUMECNwdL9bzqBqsszoe4pv9msmGoD6R73tQ#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP990505.RAnd7_gBCmUMECNwdL9bzqBqsszoe4pv9msmGoD6R73tQ#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/NP990505.RAnd7_gBCmUMECNwdL9bzqBqsszoe4pv9msmGoD6R73tQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP990505.RAnd7_gBCmUMECNwdL9bzqBqsszoe4pv9msmGoD6R73tQ http://purl.org/dc/terms/created 2017-10-17T13:16:30+02:00 http://rdf.disgenet.org/resource/nanopub/NP990505.RAnd7_gBCmUMECNwdL9bzqBqsszoe4pv9msmGoD6R73tQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP990505.RAnd7_gBCmUMECNwdL9bzqBqsszoe4pv9msmGoD6R73tQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP990505.RAnd7_gBCmUMECNwdL9bzqBqsszoe4pv9msmGoD6R73tQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP990505.RAnd7_gBCmUMECNwdL9bzqBqsszoe4pv9msmGoD6R73tQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP990505.RAnd7_gBCmUMECNwdL9bzqBqsszoe4pv9msmGoD6R73tQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP990505.RAnd7_gBCmUMECNwdL9bzqBqsszoe4pv9msmGoD6R73tQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP990505.RAnd7_gBCmUMECNwdL9bzqBqsszoe4pv9msmGoD6R73tQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP990505.RAnd7_gBCmUMECNwdL9bzqBqsszoe4pv9msmGoD6R73tQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP990505.RAnd7_gBCmUMECNwdL9bzqBqsszoe4pv9msmGoD6R73tQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP990505.RAnd7_gBCmUMECNwdL9bzqBqsszoe4pv9msmGoD6R73tQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP990505.RAnd7_gBCmUMECNwdL9bzqBqsszoe4pv9msmGoD6R73tQ 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