Loss of Function Mutation

Chong Li, Jonas Simon Fleck, Catarina Martins-Costa, et al. Single-cell brain organoid screening identifies developmental defects in autism. Nature. 2023;621(7978):373-380. doi:10.1038/s41586-023-06473-y

Eric Vallabh Minikel, Konrad J. Karczewski, Hilary C. Martin, et al. Evaluating drug targets through human loss-of-function genetic variation. Nature. 2020;581(7809):459-464. doi:10.1038/s41586-020-2267-z