Matches in Nanopublications for { ?s ?p "[Using clinical exome sequencing, we have detected three novel de novo SCN8A mutations in patients with intellectual disabilities, and variable clinical features including seizures in two patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- assertion description "[Using clinical exome sequencing, we have detected three novel de novo SCN8A mutations in patients with intellectual disabilities, and variable clinical features including seizures in two patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP1266968.RABtnEnB7kM59tPslBM1llj6tqad-0JKFVpbOa3u377ws130_assertion description "[Using clinical exome sequencing, we have detected three novel de novo SCN8A mutations in patients with intellectual disabilities, and variable clinical features including seizures in two patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1266968.RABtnEnB7kM59tPslBM1llj6tqad-0JKFVpbOa3u377ws130_provenance.