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Journal: Int. J. Mol. Sci., 2022
Volume: 23
Number: 2253
2253
Article: Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy
Authors: by François Boemer, Claire Josse, Géraldine Luis, Emmanuel Di Valentin, Jérôme Thiry, Christophe Cello, Jean-Hubert Caberg, Caroline Dadoumont, Julie Harvengt, Aimé Lumaka, Vincent Bours and François-Guillaume Debray
Link: https://www.mdpi.com/1422-0067/23/4/2253

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