| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 34400372 | 2021 | Lundquist, A. A., Farholt, S., Borresen, M. L., Duno, M., Wibrand, F., Witting, N., Ostergaard, E. (2021) A novel homoplasmic mt-tRNA(Glu) m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency European Journal of Medical Genetics . 64 (10): 104306 . |