Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue

Richa Sharma, Sushree S Sahoo, Masayoshi Honda, Sophie L Granger, Charnise Goodings, Louis Sanchez, Axel Künstner, Hauke Busch, Fabian Beier, Shondra M Pruett-Miller, Marcus B Valentine, Alfonso G Fernandez, Ti-Cheng Chang, Vincent Géli, Dmitri Churikov, Sandrine Hirschi, Victor B Pastor, Melanie Boerries, Melchior Lauten, Charikleia KelaidiMegan A Cooper, Sarah Nicholas, Jill A Rosenfeld, Sophia Polychronopoulou, Caroline Kannengiesser, Carole Saintomé, Charlotte M Niemeyer, Patrick Revy, Marc S Wold, Maria Spies, Miriam Erlacher, Stéphane Coulon, Marcin W Wlodarski

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Medicine & Life Sciences