Severe DNM1 encephalopathy with dysmyelination due to recurrent splice site pathogenic variant.

Hum Genet

Division of Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Glen Site, 1001 Boulevard Décarie, Montreal, QC, H4A 3J1, Canada.

Published: December 2020

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Source
http://dx.doi.org/10.1007/s00439-020-02224-5DOI Listing

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