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Identification and Characterization of a Novel Intronic Splicing Mutation in CSF1R-related Leukoencephalopathy

Yilai Han,Jinming Han, Zhen Li, Siqi Chen,Ju Liu, Ruxing Zhou, Shufang Zhao, Dawei Li,Zheng Liu,Yinan Zhao,Junwei Hao,Guoliang Chai

CNS NEUROSCIENCE & THERAPEUTICS（2024）

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关键词
CSF1R-related leukoencephalopathy,exon skipping,intronic mutation,RNA splicing
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