Presentation Information
[S1-4]Structural Resolution Redefines the Clinical Interpretation of Intragenic Duplications: Lessons from the DMD Gene
Man Jin Kim2,4, Jee-Soo Lee1, Seungbok Lee2,3,4, Hobin Sung5, Seung Won Chae5, Sung Im Cho5, Sang Bin Hong2,4, Jong Ho Cha2,4, Jee Min Kim2,4, Yeseul Kim1, Joowon Jang1, Moon-Woo Seong1,6, Jong-Hee Chae2,3,4 (1. Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea., 2. Department of Genomic Medicine, Seoul National University Hospital, Seoul, Republic of Korea., 3. Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Republic of Korea., 4. Rare Disease Center, Seoul National University Hospital, Seoul, Republic of Korea., 5. Department of Laboratory Medicine, Seoul National University Hospital., 6. Seoul National University Cancer Research Institute, Seoul, Republic of Korea.)
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