[2S10e-05] Comprehensive functional annotation for the VUS derived from Japanese children with mitochondrial disease

^○Yasushi Okazaki^1,2, Yoshihito Kithita¹, Ayumu Sugiura¹, Kazuhiro Nitta¹, Kokoro Ozaki^1,2, Akira Ohtake³, Kei Murayama⁴ (1.Juntendo University, Intractable Disease Research Center, 2.RIKEN IMS, 3.Saitama Medical University, Div of Pediatrics, 4.Chiba Children's Hospital, Dpt of Metabolism)

キーテクノロジー：Next Generation Sequencing

mitochondria disease、OXPHOS、NGS、VUS