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- B9b0108735f70ea946fe924e6301a9b52 NCIT_P378 "NCI" @default.
- B9b0108735f70ea946fe924e6301a9b52 type Axiom @default.
- B9b0108735f70ea946fe924e6301a9b52 annotatedProperty IAO_0000115 @default.
- B9b0108735f70ea946fe924e6301a9b52 annotatedSource NCIT_C152064 @default.
- B9b0108735f70ea946fe924e6301a9b52 annotatedTarget "An autosomal dominant form of dyskeratosis congenita, caused by mutation(s) in the TINF2 gene, encoding TERF1-interacting nuclear factor 2. It is a fatal disease associated with exudative retinopathy and bone marrow failure." @default.