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Authors
She, Chun Hing
Chan, Sophelia Hoi-Shan
Yang, Wanling
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Funding
Funding for this research was provided by:
Diagnosis and therapy development for rare neurological diseases and neuromuscular diseases
Health and Medical Research Fund (10212696)
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Article History
Received: 30 June 2025
Accepted: 27 November 2025
First Online: 7 December 2025
Declarations
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: No patient data was generated and analyzed in the study. Sequencing data and SV benchmark are publicly available from ENA and IGSR FTP site.
: Not Applicable.
: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
