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

Reijnders MRF, Seibt A, Brugger M, Lamers IJC, Ott T, Klaas O, Horvath J, Rose AMS, Craghill IM, Brunet T, Graf E, Mayerhanser K, Hellebrekers D, Pauck D, Neuen-Jacob E, Rodenburg RJT, Wieczorek D, Klee D, Mayatepek E, Driessen G, Bindermann R, Averdunk L, Lohmeier K, Sinnema M, Stegmann APA, Roepman R, Poulter JA, Distelmaier F
Genet Med. 2023 Jul;25(7):100838. doi: 10.1016/j.gim.2023.100838. Epub 2023 Apr 11. PubMed Article

Plasmids from Article

No plasmids are currently publicly available from Addgene for this article.