mTOR-activating mutations of RRAGD cause a novel syndrome combining kidney tubulopathy and cardiomyopathy
Autor: | Jouret, F., Schlingmann, K.P., Shen, K., Dafinger, C., Houillier, P., Liebau, M.C., Vargas-Poussou, R., Knoers, N.V., Konrad, M., De Baaij, J. |
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Zdroj: | In Nephrologie et Thérapeutique September 2021 17(5):280-280 |
Databáze: | ScienceDirect |
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