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- Be6fc07e7ad252759e467299d74e71928 NCIT_P378 "NCI" @default.
- Be6fc07e7ad252759e467299d74e71928 type Axiom @default.
- Be6fc07e7ad252759e467299d74e71928 annotatedProperty IAO_0000115 @default.
- Be6fc07e7ad252759e467299d74e71928 annotatedSource NCIT_C152064 @default.
- Be6fc07e7ad252759e467299d74e71928 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.