RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis

Jonathan Shintaku, Wolfgang M. Pernice, Wafaa Eyaid, B. G.C. Jeevan, Zuben P. Brown, Marti Juanola-Falgarona, Javier Torres-Torronteras, Ewen W. Sommerville, Debby M.E.I. Hellebrekers, Emma L. Blakely, Alan Donaldson, Ingrid van de Laar, Cheng Shiun Leu, Ramon Marti, Joachim Frank, Kurenai Tanji, David A. Koolen, Richard J. Rodenburg, Patrick F. Chinnery, H. J.M. SmeetsGráinne S. Gorman, Penelope E. Bonnen, Robert W. Taylor, Michio Hirano*

*Corresponding author for this work

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