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

Sharma, R., S. S. Sahoo, M. Honda, S. L. Granger, C. Goodings, L. Sanchez, A. Kunstner, H. Busch, F. Beier, S. M. Pruett-Miller, M. B. Valentine, A. G. Fernandez, T. C. Chang, V. Geli, D. Churikov, S. Hirschi, V. B. Pastor, M. Boerries, M. Lauten, C. Kelaidi, M. A. Cooper, S. Nicholas, J. A. Rosenfeld, S. Polychronopoulou, C. Kannengiesser, C. Saintome, C. M. Niemeyer, P. Revy, M. S. Wold, M. Spies, M. Erlacher, S. Coulon, and M. W. Wlodarski. 2022. Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue. Blood 139: 1039-1051

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This post was written by Heike Ufheil