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- Bc2583b059059abc6677e14b6d1f63dec NCIT_P378 "NCI" @default.
- Bc2583b059059abc6677e14b6d1f63dec type Axiom @default.
- Bc2583b059059abc6677e14b6d1f63dec annotatedProperty IAO_0000115 @default.
- Bc2583b059059abc6677e14b6d1f63dec annotatedSource NCIT_C164224 @default.
- Bc2583b059059abc6677e14b6d1f63dec annotatedTarget "An autosomal recessive sub-type of hereditary spastic paraplegia caused by mutation(s) in the AP4B1 gene, encoding AP-4 complex subunit beta-1. It is characterized by severe mental retardation and spasticity." @default.