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Journal European Journal of Human Genetics
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van der Beek, N.A.M.E, 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