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A novel c.116 - 117 del variant in Unverricht-Lundborg disease: first ULD report in large Chinese population and review of the pathogenetic variants in CSTB gene

Crossref DOI link: https://doi.org/10.1186/s42494-025-00216-4

Published Online: 2025-05-29

Published Print: 2025-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Miao, Pu

Ding, Yao

Cen, Zhidong

Chen, Yulan

Luo, Wei

Zhang, Baorong

Wu, Zhiying

Ding, Meiping

Wang, Shuang
Funding

Funding for this research was provided by:

National Outstanding Youth Science Fund Project of National Natural Science Foundation of China (82101515)
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Article History

Received: 2 January 2025

Accepted: 26 March 2025

First Online: 29 May 2025

Declarations

:

: Ethical approval for this study was granted by Second Affiliated Hospital, School of Medicine, Zhejiang University. Informed consent was obtained from participant in written form prior to their involvement in the research (2013–0321).

: Not applicable.

: None.

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