A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency

Matthew A. Lines, Alexanne Cuillerier, Pranesh Chakraborty, Turaya Naas, M. Laura Duque Lasio, Jean Michaud, Chantal Pileggi, Mary Ellen Harper, Yan Burelle, Tomi L. Toler, Neal Sondheimer, Heather P. Crawford, Francisca Millan, Michael T. Geraghty

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Medicine & Life Sciences