AP4B1

Autosomal recessive spastic paraplegia 47 (AP-4 complex deficiency)

1 article(s) in the watch · Constitutional genetics

Curated publications

Splice effect of a synonymous variant in AP4B1: multiomics approach establishes the diagnosis in two sisters with spastic paraplegia.

Autosomal recessive spastic paraplegia 47 (AP-4 complex deficiency)

Automatic aggregation page — a clinical introduction may be added.