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- B8fec60fd3ebe14c2a7517efbe819f44e NCIT_P378 "NCI" @default.
- B8fec60fd3ebe14c2a7517efbe819f44e type Axiom @default.
- B8fec60fd3ebe14c2a7517efbe819f44e annotatedProperty IAO_0000115 @default.
- B8fec60fd3ebe14c2a7517efbe819f44e annotatedSource NCIT_C129035 @default.
- B8fec60fd3ebe14c2a7517efbe819f44e annotatedTarget "An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability." @default.