A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death
| Autor: | Penque, Brent A., Su, Leila, Wang, Jianghai, Ji, Weizhen, Bale, Allen, Luh, Frank, Fulbright, Robert K., Sarmast, Uzair, Sega, Annalisa G., Konstantino, Monica, Spencer-Manzon, Michele, Pierce, Richard, Yen, Yun, Lakhani, Saquib A. |
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| Zdroj: | In European Journal of Medical Genetics November 2019 62(11) |
| Databáze: | ScienceDirect |
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