Presentation Information
[P1-06-1]Identification of novel pathogenic deep intronic variants in undiagnosed mitochondrial disease patients
Yukiko Yatsuka1, Yoshihito Kishita1,2, Kohta Nakamura1, Ayumu Sugiura1, Atsuko Imai-Okazaki1, Akira Ohtake3,4, Kei Murayama1, Yasushi Okazaki1 (1.Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, 2.Department of Life Science, Faculty of Science and Engineering, Kindai University, 3.Department of Pediatrics, Saitama Medical University, 4.Department of Clinical Genomics, Saitama Medical University)
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