Matches in Nanopublications for { ?s ?p "[Novel pathogenic CDKL5 mutations were identified in three girls, two of whom had initially been diagnosed with the early onset seizure variant of RTT and the other with early onset seizures and some features of RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- assertion description "[Novel pathogenic CDKL5 mutations were identified in three girls, two of whom had initially been diagnosed with the early onset seizure variant of RTT and the other with early onset seizures and some features of RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP503961.RAKNTi-mPZBQ6PCbBEJ86XfBMQx6cXzCMB3YWCTKdNmC0130_assertion description "[Novel pathogenic CDKL5 mutations were identified in three girls, two of whom had initially been diagnosed with the early onset seizure variant of RTT and the other with early onset seizures and some features of RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP503961.RAKNTi-mPZBQ6PCbBEJ86XfBMQx6cXzCMB3YWCTKdNmC0130_provenance.