http://rdf.disgenet.org/nanopublications.trig#NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0130_head http://rdf.disgenet.org/nanopublications.trig#NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0130_assertion http://rdf.disgenet.org/nanopublications.trig#NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0130_provenance http://rdf.disgenet.org/nanopublications.trig#NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0130_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/gene-disease-association.ttl#DGNeb54297aa2e5da03c2b13a7b093a217b http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6792 http://rdf.disgenet.org/gene-disease-association.ttl#DGNeb54297aa2e5da03c2b13a7b093a217b http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2748910 http://rdf.disgenet.org/gene-disease-association.ttl#DGNeb54297aa2e5da03c2b13a7b093a217b http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0130_provenance http://rdf.disgenet.org/nanopublications.trig#NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0130_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/nanopublications.trig#NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17993579 http://rdf.disgenet.org/nanopublications.trig#NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0 http://purl.org/dc/terms/created 2014-10-02T12:37:30+02:00 http://rdf.disgenet.org/nanopublications.trig#NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0 http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0