mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion.

Calhoun JD, Aziz MC, Happ HC, Gunti J, Gleason C, Mohamed N, Zeng K, Hiller M, Bryant E, Mithal DS, Bellinski I, Kinsley L, Grimmel M, Schwaibold EMC, Smith-Hicks C, Chassevent A, Scala M, Accogli A, Torella A, Striano P, Capra V, Bird LM, Ben-Sahra I, Ekhilevich N, Hershkovitz T, Weiss K, Millichap J, Gerard EE, Carvill GL
Brain. 2022 Jun 30;145(6):1939-1948. doi: 10.1093/brain/awab451. PubMed Article

Plasmids from Article

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