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 Rett Syndrome (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 Rett Syndrome (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.
- 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 Rett Syndrome (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.
- NP191987.RADQSnck0u2-7SUTLw0-tSIRM3LbAkB_VcmhC6sszHGFY130_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 Rett Syndrome (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." NP191987.RADQSnck0u2-7SUTLw0-tSIRM3LbAkB_VcmhC6sszHGFY130_provenance.
- NP200022.RADcjuhIFt0s3GTqOm0t7ndm8sR7zukKKcT3mxf-lwUKM130_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 Rett Syndrome (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." NP200022.RADcjuhIFt0s3GTqOm0t7ndm8sR7zukKKcT3mxf-lwUKM130_provenance.