De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects (4714)

We aimed to provide genetic proof for mutations in asparaginyl-tRNA synthetase (NARS1) and analyze their impact through the use of individual cell lines, neural progenitor cells, and molecular modelling.