Splice effect of a synonymous variant in AP4B1: multiomics approach establishes the diagnosis in two sisters with spastic paraplegia.
Authors: Badmann S, Saparov A, Harrer P, Beuschlein J, Daumer-Haas C, Graf E, Ludwig C, Mergner J, Brunet T, Jacob M, Prokisch H, Winkelmann J, Meitinger T, Zech M, Wagner M
Journal: Human mutation
family therapy
mental health
open access