Case report
Open access
Jan 2026
Splice effect of a synonymous variant in AP4B1: multiomics approach establishes the diagnosis in two sisters with spastic paraplegia
The identification of biallelic causative variants in AP4B1 established the diagnosis of monogenic “Spastic paraplegia 47, autosomal recessive” while the initial hypothesis of digenic inheritance was refuted.
Susann Badmann, A. Saparov, P. Harrer et al.
· Human Mutation · 0 citations