Lopez‐Lopez, D., Loucera, C., Carmona, R., Aquino, V., Salgado, J., Pasalodos, S., Miranda, M., Alonso, Á., Dopazo, J., 2020. SMN1 copy‐number and sequence variant analysis from next‐generation sequencing data.. https://doi.org/10.1002/humu.24120