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

    Published in:
    2022
    By:
    • Calhoun, Jeffrey D;
    • Aziz, Miriam C;
    • Happ, Hannah C;
    • Gunti, Jonathan;
    • Gleason, Colleen;
    • Mohamed, Najma;
    • Zeng, Kristy;
    • Hiller, Meredith;
    • Bryant, Emily;
    • Mithal, Divakar S;
    • Bellinski, Irena;
    • Kinsley, Lisa;
    • Grimmel, Mona;
    • Schwaibold, Eva M C;
    • Smith-Hicks, Constance;
    • Chassevent, Anna;
    • Scala, Marcello;
    • Accogli, Andrea;
    • Torella, Annalaura;
    • Striano, Pasquale
    Publication type:
    journal article