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Persistent URL dx.doi.org/10.1038/s41431-018-0250-z, hdl.handle.net/1765/110991
Journal European Journal of Human Genetics
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Citation
AME van der Beek, N. (Nadine), Nelson, I. (Isabelle), Froissart, R. (Roseline), Levade, T. (Thierry), Garcia, V. (Virginie), Lacene, E. (Emmanuelle), … Béhin, A. (Anthony). (2018). A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1. European Journal of Human Genetics. doi:10.1038/s41431-018-0250-z