Presentation Information
[O7-3]Identification of deep intronic variants affecting exonic splicing enhancers of ASNS gene by transcriptome sequencing
○Takuya Naruto1, Yumi Enomoto2, Yoko Saito1, Yasuhiro Kawai1, Koki Nagai1, Tomoko Nisikawa1, Ruriko Tachioka1, Yukiko Kuroda1, Kenji Kurosawa1 (1.Kanagawa Children's Medical Center, Clinical Research Institute, 2.Kanagawa Children's Medical Center, Division of Medical Genetics)