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Novel Loss of Function Variant in BCKDK Causes a Treatable ..:
Boemer, François
;
Josse, Claire
;
Luis, Géraldine
...
International Journal of Molecular Sciences. 23 (2022) 4 - p. 2253 , 2022
Link:
https://doi.org/10.3390/ijms23042253
RT Journal T1 <Title>Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.3390_ijms23042253&Exemplar=1&LAN=DE A1 Boemer, François A1 Josse, Claire A1 Luis, Géraldine A1 Di Valentin, Emmanuel A1 Thiry, Jérôme A1 Cello, Christophe A1 Caberg, Jean-Hubert A1 Dadoumont, Caroline A1 Harvengt, Julie A1 Lumaka, Aimé A1 Bours, Vincent A1 Debray, François-Guillaume PB MDPI AG YR 2022 SN 1422-0067 JF International Journal of Molecular Sciences VO 23 IS 4 SP 2253 LK http://dx.doi.org/https://doi.org/10.3390/ijms23042253 DO https://doi.org/10.3390/ijms23042253 SF ELIB - SuUB Bremen
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