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[BIO-03]Functional verification and allele-specific silencing of an AKT3 variant that causes megalencephaly and epilepsy
○Yosuke Miyamoto1, Eisuke Ichise1, Takenori Tozawa1, Tatsuji Hasegawa1, Masafumi Morimoto2, Takahiro Fujimoto3, Kyoko Itoh3, Tomohiro Chiyonobu1,4 (1.Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan, 2.Department of Medical Science,Department of Medical Science, School of Nursing, Kyoto Prefectural University of Medicine, Kyoto, Japan, 3.Department of Pathology and Applied Neurobiology Kyoto Prefectural University of Medicine, Kyoto, Japan, 4.Department of Molecular Diagnostics and Therapeutics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan)