| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 22378285 | 2012 | Tuppen, H. A., Naess, K., Kennaway, N. G., Al-Dosary, M., Lesko, N., Yarham, J. W., Bruhn, H., Wibom, R., Nennesmo, I., Weleber, R. G., Blakely, E. L., Taylor, R. W., McFarland, R. (2012) Mutations in the mitochondrial tRNA(Ser(AGY)) gene are associated with deafness, retinal degeneration, myopathy and epilepsy European Journal of Human Genetics . 20 (8): 897-904 . |