Deep intronic TIMMDC1 variant delays diagnosis of rapidly progressive complex I deficiency
| Autor: | Naber, Myrthe, Hellebrekers, Debby, Nievelstein, Rutger A.J., van Hasselt, Peter M., van Jaarsveld, Richard H., Cuppen, Inge, Oegema, Renske |
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| Zdroj: | In European Journal of Medical Genetics January 2021 64(1) |
| Databáze: | ScienceDirect |
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