Presentation Information
[P2-06-10]Three cases where short-read NGS facilitated the diagnosis of genetic disorders associated with structural variants
Kenichiro Nakamura1,3, Takao Matsuda2, Takuya Hanaoka1,3, Shintaro Iwao1, Katsumasa Goto1, Etsuro Matsubara3, Noriyuki Kimura3 (1.Department of Neurology, NHO Nishibeppu National Hospital, 2.Department of Reproductive Medicine and Genetics, NHO Nishibeppu National Hospital, 3.Department of Neurology, Faculty of Medicine, Oita University)
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