European Journal of Human Genetics, Published online: 27 December 2025; doi:10.1038/s41431-025-01990-y
A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohortEuropean Journal of Human Genetics, Published online: 27 December 2025; doi:10.1038/s41431-025-01990-y
A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort