학술논문
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion
Document Type
Journal
Author
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; Capra, Valeria; Bird, Lynne M.; Ben-Sahra, Issam; Ekhilevich, Nina; Hershkovitz, Tova; Weiss, Karin; Millichap, John; Gerard, Elizabeth E.; Carvill, Gemma L.
Source
Subject
Language
English
ISSN
14602156