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Authors
Suzuki, Yasuyo
Uehara, Daniela Tiaki
Enokido, Yasushi
Kawai, Taeko
Nomura, Noriko
Yamada, Kenichiro
Takanashi, Jun-ichi
Miyahara, Hiroaki
Inazawa, Johji
Hayashi, Shin
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Funding
Funding for this research was provided by:
Japan Society for the Promotion of Science (JP24K10523)
Japan Society for the Promotion of Science (JP24K11014)
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Article History
Received: 31 July 2025
Accepted: 18 November 2025
First Online: 26 December 2025
Declarations
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: Written informed consent was obtained from the parents of each patient. The experiments in this study were conducted after obtaining approval from the Research Ethics Committee of the Tokyo Medical and Dental University and all institutions involved gno in this project (#2011–21-3). All animal experiments were approved by the Institutional Animal Care and Use Committee (approval No. 2021-003R1) and the Institutional Biosafety Committee for Living Modified Organisms (approval No. 24–5-2) of the Aichi Developmental Disability Center.
: The authors declare no competing interests.
: BestKeeper program: SpliceAI: The gnomAD database v4.1.0: (v4.1.0, accessed Feb 2025).Tohoku Megabank: (most recent dataset of 60k individuals).
