Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP397484.RAlWdqXto3XovtBnwpjX24gxejXmdF2QCZVVHvb6Yt1_0130_assertion> ?p ?o ?g. }
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- NP397484.RAlWdqXto3XovtBnwpjX24gxejXmdF2QCZVVHvb6Yt1_0130_assertion type Assertion NP397484.RAlWdqXto3XovtBnwpjX24gxejXmdF2QCZVVHvb6Yt1_0130_head.
- NP397484.RAlWdqXto3XovtBnwpjX24gxejXmdF2QCZVVHvb6Yt1_0130_assertion description "[Patients with the CDKL5 mutation have an early onset, epileptic encephalopathy in infancy that evolves into myoclonic seizures in childhood with a unique EEG pattern.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP397484.RAlWdqXto3XovtBnwpjX24gxejXmdF2QCZVVHvb6Yt1_0130_provenance.
- NP397484.RAlWdqXto3XovtBnwpjX24gxejXmdF2QCZVVHvb6Yt1_0130_assertion evidence source_evidence_literature NP397484.RAlWdqXto3XovtBnwpjX24gxejXmdF2QCZVVHvb6Yt1_0130_provenance.
- NP397484.RAlWdqXto3XovtBnwpjX24gxejXmdF2QCZVVHvb6Yt1_0130_assertion SIO_000772 16326141 NP397484.RAlWdqXto3XovtBnwpjX24gxejXmdF2QCZVVHvb6Yt1_0130_provenance.
- NP397484.RAlWdqXto3XovtBnwpjX24gxejXmdF2QCZVVHvb6Yt1_0130_assertion wasDerivedFrom befree-20140225 NP397484.RAlWdqXto3XovtBnwpjX24gxejXmdF2QCZVVHvb6Yt1_0130_provenance.
- NP397484.RAlWdqXto3XovtBnwpjX24gxejXmdF2QCZVVHvb6Yt1_0130_assertion wasGeneratedBy ECO_0000203 NP397484.RAlWdqXto3XovtBnwpjX24gxejXmdF2QCZVVHvb6Yt1_0130_provenance.