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Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease

Title:	Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease
Authors:	Van Haute, Lindsey^Aff1; Páleníková, Petra^{Aff1, Aff18}; Tang, Jia Xin^{Aff2, Aff19}; Nash, Pavel A^Aff1; Simon, Mariella T^Aff3; Pyle, Angela^Aff4; Oláhová, Monika^{Aff2, Aff4}; Powell, Christopher A^Aff1; Rebelo-Guiomar, Pedro^{Aff1, Aff20}; Stover, Alexander^Aff3; Champion, Michael^Aff5; Deshpande, Charulata^{Aff6, Aff7}; Baple, Emma L^{Aff8, Aff9, Aff10}; Stals, Karen L^Aff8; Ellard, Sian^{Aff8, Aff9}; Anselem, Olivia^Aff11; Molac, Clémence^Aff11; Petrilli, Giulia^Aff12; Loeuillet, Laurence^Aff12; Grotto, Sarah^Aff13; Attie-Bitach, Tania^{Aff12, Aff14}; Abdenur, Jose E^{Aff3, Aff15}; Taylor, Robert W^{Aff2, Aff16, IDs44321024001725_cor1}; Minczuk, Michal^{Aff1, Aff17, IDs44321024001725_cor2}
Source:	EMBO Molecular Medicine. 17(1):193-210
Database:	Springer Nature Journals