Biallelic variants in mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects resulting in pleiotropic multisystem presentations Irit Hochberg , Leigh A. M. Demain , Julie Richer , Kyle Thompson , Waheeda Pagarkar , Agusti Rodriguez-Palmero Seuma , Edgard Verdura , Aurora Pujol , Albert Amberger , Andrea J. Deutschmann , Sandra Demetz , James O'Sullivan , Meredith Gillespie , Inna A. Belyantseva , Hugh J. McMillan , Melanie Barzik , Jill E. Urquhart , Alessandro Rea , Glenda M. Beaman , Simon G. Williams , Sanjeev S. Bhaskar , Isabella R. Lawrence , Emma M. Jenkinson , Jessica L. Zambonin , Zeev Blumenfeld , Sergey Yalonetsky , Stephanie Oerum , Walter Rossmanith , Wyatt W. Yue , Johannes Zschocke , Kevin J. Munro , Brendan J. Battersby , Thomas B. Friedman , Robert W. Taylor , Raymond T. O'Keefe , William G. Newman EUROPEAN JOURNAL OF HUMAN GENETICS(2022)
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