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Elsevier, Genetics in Medicine, 7(25), p. 100838, 2023

DOI: 10.1016/j.gim.2023.100838

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De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood

Journal article published in 2023 by Margot R. F. Reijnders, Annette Seibt, Melanie Brugger, Ideke J. C. Lamers, Torsten Ott, Oliver Klaas, Judit Horváth, Ailsa M. S. Rose, Isabel M. Craghill, Theresa Brunet, Elisabeth Graf, Katharina Mayerhanser, Debby Hellebrekers, David Pauck, Eva Neuen-Jacob and other authors.
This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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