Identification and characterization of a novel intronic splicing mutation in CSF1R-related leukoencephalopathy.
Yilai HanJinming HanZhen LiSiqi ChenJu LiuRuxing ZhouShufang ZhaoDawei LiZheng LiuYinan ZhaoJunwei HaoGuoliang ChaiPublished in: CNS neuroscience & therapeutics (2024)
Our findings underscore the importance of intronic mis-splicing mutations in the diagnosis and management of CSF1R-related leukoencephalopathy.
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