Presentation Information
[P2-03-03]A novel ASXL3 frameshift variant in a girl with Bainbridge-Ropers syndrome
Ryojun Takeda1,2, Kyoko Takano1,3,4, Tomomi Yamaguchi3,4,5, Tomoki Kosho1,3,4,5,6 (1. Department of Medical Genetics, Nagano Childrens Hospital, 2. Life Science Research Center, Nagano Childrens Hospital, 3. Department of Medical Genetics, Shinshu University School of Medicine, 4. Center for Medical Genetics, Shinshu University Hospital, 5. Division of Clinical Sequencing, Shinshu University School of Medicine, 6. Research Center for Advanced Science and Technology, Shinshu University)
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