http://rdf.disgenet.org/resource/nanopub/NP990702.RA4kxr01WLpOK3huas-6tAdMbPyQ8TYnt9D3KzilJDG8E#head
http://rdf.disgenet.org/resource/nanopub/NP990702.RA4kxr01WLpOK3huas-6tAdMbPyQ8TYnt9D3KzilJDG8E
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP990702.RA4kxr01WLpOK3huas-6tAdMbPyQ8TYnt9D3KzilJDG8E#assertion
http://rdf.disgenet.org/resource/nanopub/NP990702.RA4kxr01WLpOK3huas-6tAdMbPyQ8TYnt9D3KzilJDG8E
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP990702.RA4kxr01WLpOK3huas-6tAdMbPyQ8TYnt9D3KzilJDG8E#provenance
http://rdf.disgenet.org/resource/nanopub/NP990702.RA4kxr01WLpOK3huas-6tAdMbPyQ8TYnt9D3KzilJDG8E
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP990702.RA4kxr01WLpOK3huas-6tAdMbPyQ8TYnt9D3KzilJDG8E#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP990702.RA4kxr01WLpOK3huas-6tAdMbPyQ8TYnt9D3KzilJDG8E
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP990702.RA4kxr01WLpOK3huas-6tAdMbPyQ8TYnt9D3KzilJDG8E#assertion
http://rdf.disgenet.org/resource/gda/DGN553cd526a4ec90b5aa22822fc8b80528
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/6792
http://rdf.disgenet.org/resource/gda/DGN553cd526a4ec90b5aa22822fc8b80528
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0004352
http://rdf.disgenet.org/resource/gda/DGN553cd526a4ec90b5aa22822fc8b80528
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP990702.RA4kxr01WLpOK3huas-6tAdMbPyQ8TYnt9D3KzilJDG8E#provenance
http://rdf.disgenet.org/resource/nanopub/NP990702.RA4kxr01WLpOK3huas-6tAdMbPyQ8TYnt9D3KzilJDG8E#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/NP990702.RA4kxr01WLpOK3huas-6tAdMbPyQ8TYnt9D3KzilJDG8E#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/NP990702.RA4kxr01WLpOK3huas-6tAdMbPyQ8TYnt9D3KzilJDG8E#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/17993579
http://rdf.disgenet.org/resource/nanopub/NP990702.RA4kxr01WLpOK3huas-6tAdMbPyQ8TYnt9D3KzilJDG8E#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP990702.RA4kxr01WLpOK3huas-6tAdMbPyQ8TYnt9D3KzilJDG8E#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/NP990702.RA4kxr01WLpOK3huas-6tAdMbPyQ8TYnt9D3KzilJDG8E#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP990702.RA4kxr01WLpOK3huas-6tAdMbPyQ8TYnt9D3KzilJDG8E
http://purl.org/dc/terms/created
2017-10-17T13:16:30+02:00
http://rdf.disgenet.org/resource/nanopub/NP990702.RA4kxr01WLpOK3huas-6tAdMbPyQ8TYnt9D3KzilJDG8E
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP990702.RA4kxr01WLpOK3huas-6tAdMbPyQ8TYnt9D3KzilJDG8E
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP990702.RA4kxr01WLpOK3huas-6tAdMbPyQ8TYnt9D3KzilJDG8E
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP990702.RA4kxr01WLpOK3huas-6tAdMbPyQ8TYnt9D3KzilJDG8E
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP990702.RA4kxr01WLpOK3huas-6tAdMbPyQ8TYnt9D3KzilJDG8E
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP990702.RA4kxr01WLpOK3huas-6tAdMbPyQ8TYnt9D3KzilJDG8E
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP990702.RA4kxr01WLpOK3huas-6tAdMbPyQ8TYnt9D3KzilJDG8E
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP990702.RA4kxr01WLpOK3huas-6tAdMbPyQ8TYnt9D3KzilJDG8E
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP990702.RA4kxr01WLpOK3huas-6tAdMbPyQ8TYnt9D3KzilJDG8E
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP990702.RA4kxr01WLpOK3huas-6tAdMbPyQ8TYnt9D3KzilJDG8E
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP990702.RA4kxr01WLpOK3huas-6tAdMbPyQ8TYnt9D3KzilJDG8E
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