De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood
RRAGC 中的新生错义变异导致儿童早期发生致命的 mTOR 病
期刊:Genetics in Medicine
影响因子:6.6
doi:10.1016/j.gim.2023.100838
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, Richard J T Rodenburg, Dagmar Wieczorek, Dirk
