Characterization of a novel neurodevelopmental rare disease caused by a mutation within the autophagy gene ATG9B
Seval Kılıç, Kerem Esmen, Jean‐Loup Méreaux…·M. Kasim Diril
The paper reports a novel neurodevelopmental disorder caused by a frameshift mutation in ATG9B, and characterizes its effects using cell models and knock-in mice.