Presentation Information
[O8-02]Genome Mapping and HiFi Sequencing Identified a Novel Complex Structural Variant in Hereditary Neuralgic Amyotrophy
Kumiko Yanagi1, Mariko Takeuchi1, Yumi Enomoto1, Sayaka Ohno1, Arisa Igarashi1, Masahiko Yamamori1, Kimihiko Kaneko2, Rumiko Izumi2, Gakusuke Umezawa2, Masashi Aoki2, Tetsuya Niihori3, Yoko Aoki3, Yoichi Matsubara4, Tadashi Kaname1 (1. Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan, 2. Department of Neurology, Tohoku University Graduate School of Medicine, Miyagi, Japan, 3. Department of Medical Genetics, Tohoku University School of Medicine, Miyagi, Japan, 4. National Center for Child Health and Development, Tokyo, Japan)
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