Presentation Information
[O17-03]A novel de novo RBBP5 variant impairs KMT2D-SET binding and clusters within the Kabuki syndrome episignature
Takuya Naruto1, Tomoko Satake1, Yumi Enomoto1, Kenji Kurosawa2, Yukiko Kuroda2 (1. Clinical Research Institute, Kanagawa Children's Medical Center, 2. Division of Medical Genetics, Kanagawa Children's Medical Center)
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