P406 Identification of a deep-intronic variant that results in a pseudoexon in an individual with NEB-related myopathy
| Autor: | Estévez-Arias, B., Yépez, V., Ortez, C., Carrera-Garcia, L., Exposito-Escudero, J., Codina, A., Aznar-Lain, G., Diaz, A., Jou, C., Nascimento, A., De Benito, D Natera |
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| Zdroj: | In Neuromuscular Disorders October 2023 33 Supplement 1:S125-S125 |
| Databáze: | ScienceDirect |
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