A novel intronic variant in the ASAH1 gene enhances aberrant splicing, causing spinal muscular atrophy with progressive myoclonic epilepsy.
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| Title: | A novel intronic variant in the ASAH1 gene enhances aberrant splicing, causing spinal muscular atrophy with progressive myoclonic epilepsy. |
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| Authors: | Bai, Jinli1 (AUTHOR), Li, Ping1 (AUTHOR), Jiao, Hui2 (AUTHOR), Jin, Yuwei1 (AUTHOR), Wang, Hong1 (AUTHOR), Jiang, Qinglin1 (AUTHOR), Song, Fang1 (AUTHOR), Peng, Xiaoyin2 (AUTHOR) pengxy74@126.com, Qu, Yujin1 (AUTHOR) hurry_qu@sina.com |
| Source: | Italian Journal of Pediatrics. 7/8/2025, Vol. 51 Issue 1, p1-10. 10p. |
| Database: | Academic Search Ultimate |
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| ISSN: | 17208424 |
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| DOI: | 10.1186/s13052-025-02058-9 |
