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This study was supported by funding from the Research Institute of the McGill University Health Centre and the Fonds de Recherches du Québec – Santé.
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Sahly, A.N., Krochmalnek, E., St-Onge, J. et al. Severe DNM1 encephalopathy with dysmyelination due to recurrent splice site pathogenic variant. Hum Genet 139, 1575–1578 (2020). https://doi.org/10.1007/s00439-020-02224-5
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DOI: https://doi.org/10.1007/s00439-020-02224-5