A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1
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| Date de publication | |
| Auteurs | van der Beek N, Nelson I, Froissart R, Levade T, Garcia V, Lacene E, Boland A, Masson C, Romero NB, Stojkovic T, Bonne G and Behin A |
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| Année | 2,019 |
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| Institut | JACOB |
| url DOI | 10.1038/s41431-018-0250-z |