http://rdf.disgenet.org/resource/nanopub/NP990781.RAQXLV_T3hWYXpy_LhfF8H1vqe9jV6BX3TQxY-WbOPUTs#head http://rdf.disgenet.org/resource/nanopub/NP990781.RAQXLV_T3hWYXpy_LhfF8H1vqe9jV6BX3TQxY-WbOPUTs http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP990781.RAQXLV_T3hWYXpy_LhfF8H1vqe9jV6BX3TQxY-WbOPUTs#assertion http://rdf.disgenet.org/resource/nanopub/NP990781.RAQXLV_T3hWYXpy_LhfF8H1vqe9jV6BX3TQxY-WbOPUTs http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP990781.RAQXLV_T3hWYXpy_LhfF8H1vqe9jV6BX3TQxY-WbOPUTs#provenance http://rdf.disgenet.org/resource/nanopub/NP990781.RAQXLV_T3hWYXpy_LhfF8H1vqe9jV6BX3TQxY-WbOPUTs http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP990781.RAQXLV_T3hWYXpy_LhfF8H1vqe9jV6BX3TQxY-WbOPUTs#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP990781.RAQXLV_T3hWYXpy_LhfF8H1vqe9jV6BX3TQxY-WbOPUTs http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP990781.RAQXLV_T3hWYXpy_LhfF8H1vqe9jV6BX3TQxY-WbOPUTs#assertion http://rdf.disgenet.org/resource/gda/DGNcc9fa2bc4ddfe079880edcc59cea6c60 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6792 http://rdf.disgenet.org/resource/gda/DGNcc9fa2bc4ddfe079880edcc59cea6c60 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0424605 http://rdf.disgenet.org/resource/gda/DGNcc9fa2bc4ddfe079880edcc59cea6c60 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP990781.RAQXLV_T3hWYXpy_LhfF8H1vqe9jV6BX3TQxY-WbOPUTs#provenance http://rdf.disgenet.org/resource/nanopub/NP990781.RAQXLV_T3hWYXpy_LhfF8H1vqe9jV6BX3TQxY-WbOPUTs#assertion http://purl.org/dc/terms/description [Interestingly these missense mutations that result in a mislocalisation of the CDKL5 protein are associated with severe developmental delay which was apparent within the first months of life characterised by early and generalised hypotonia, and autistic features, and as well as early infantile spasms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP990781.RAQXLV_T3hWYXpy_LhfF8H1vqe9jV6BX3TQxY-WbOPUTs#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/NP990781.RAQXLV_T3hWYXpy_LhfF8H1vqe9jV6BX3TQxY-WbOPUTs#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17993579 http://rdf.disgenet.org/resource/nanopub/NP990781.RAQXLV_T3hWYXpy_LhfF8H1vqe9jV6BX3TQxY-WbOPUTs#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP990781.RAQXLV_T3hWYXpy_LhfF8H1vqe9jV6BX3TQxY-WbOPUTs#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/NP990781.RAQXLV_T3hWYXpy_LhfF8H1vqe9jV6BX3TQxY-WbOPUTs#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP990781.RAQXLV_T3hWYXpy_LhfF8H1vqe9jV6BX3TQxY-WbOPUTs http://purl.org/dc/terms/created 2017-10-17T13:16:30+02:00 http://rdf.disgenet.org/resource/nanopub/NP990781.RAQXLV_T3hWYXpy_LhfF8H1vqe9jV6BX3TQxY-WbOPUTs http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP990781.RAQXLV_T3hWYXpy_LhfF8H1vqe9jV6BX3TQxY-WbOPUTs http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP990781.RAQXLV_T3hWYXpy_LhfF8H1vqe9jV6BX3TQxY-WbOPUTs http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP990781.RAQXLV_T3hWYXpy_LhfF8H1vqe9jV6BX3TQxY-WbOPUTs http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP990781.RAQXLV_T3hWYXpy_LhfF8H1vqe9jV6BX3TQxY-WbOPUTs http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP990781.RAQXLV_T3hWYXpy_LhfF8H1vqe9jV6BX3TQxY-WbOPUTs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP990781.RAQXLV_T3hWYXpy_LhfF8H1vqe9jV6BX3TQxY-WbOPUTs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP990781.RAQXLV_T3hWYXpy_LhfF8H1vqe9jV6BX3TQxY-WbOPUTs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP990781.RAQXLV_T3hWYXpy_LhfF8H1vqe9jV6BX3TQxY-WbOPUTs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP990781.RAQXLV_T3hWYXpy_LhfF8H1vqe9jV6BX3TQxY-WbOPUTs http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP990781.RAQXLV_T3hWYXpy_LhfF8H1vqe9jV6BX3TQxY-WbOPUTs 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