Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP990678.RAPv26krpdxG85O8GDvfclNa2WomThRMtbyNXTDLc_6BI#assertion> ?p ?o ?g. }
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- assertion description "[Epilepsy with mutation of the CDKL5 gene causes early seizures and is a variant of Rett syndrome (MIM (312750), which is reported typically as infantile spasms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 16326141 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.