mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion (vol 145, pg 1939, 2022)
Jeffrey D. Calhoun,Miriam C. Aziz, Hannah C. Happ, Jonathan Gunti, Colleen Gleason, Najma Mohamed, Kristy Zeng, Meredith Hiller,Emily Bryant,Divakar S. Mithal,Irena Bellinski,Lisa Kinsley,Mona Grimmel, Eva M. C. Schwaibold,Constance Smith-Hicks,Anna Chassevent,Marcello Scala,Andrea Accogli,Annalaura Torella,Pasquale Striano,Valeria Capra,Lynne M. Bird,Issam Ben-Sahra, Nina Ekhilevich,Tova Hershkovitz,Karin Weiss,John Millichap,Elizabeth E. Gerard,Gemma L. Carvill BRAIN（2023）
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