Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability
| Autor: | Ait-El-Mkadem Saadi, Samira, Kaphan, Elsa, Morales Jaurrieta, Amaya, Fragaki, Konstantina, Chaussenot, Annabelle, Bannwarth, Sylvie, Maues De Paula, André, Paquis-Flucklinger, Véronique, Rouzier, Cécile |
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| Zdroj: | In European Journal of Medical Genetics December 2022 65(12) |
| Databáze: | ScienceDirect |
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