NEW GENES IN NEUROMUSCULAR DISEASES: O.04 Heterozygous frameshift variants in hnRNPA2B1 cause a novel oculopharyngodistal muscular dystrophy
| Autor: | Mohassel, P., Donkervoort, S., Kim, H., Foley, A., Lornage, X., Foulds, N., Hammans, S., Haack, T., Böhm, J., Tarnopolsky, M., Straub, V., Laporte, J., Muntoni, F., Taylor, J., Bönnemann, C. |
|---|---|
| Zdroj: | In Neuromuscular Disorders October 2020 30 Supplement 1:S47-S47 |
| Databáze: | ScienceDirect |
| Externí odkaz: |
|
Full Text from ScienceDirect