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- B9f89d473b1d5755d78d5af062bc387f2 NCIT_P378 "NCI" @default.
- B9f89d473b1d5755d78d5af062bc387f2 type Axiom @default.
- B9f89d473b1d5755d78d5af062bc387f2 annotatedProperty IAO_0000115 @default.
- B9f89d473b1d5755d78d5af062bc387f2 annotatedSource NCIT_C185529 @default.
- B9f89d473b1d5755d78d5af062bc387f2 annotatedTarget "A genetic finding indicating that one copy of chromosome 16 has a hemoglobin beta gene (HBB) with mutations that lead to hemoglobin subunit beta insufficiency (B+) and the other copy has HBB loss of function or gene deletion mutations (B0). This genotype is associated with beta thalassemia intermedia." @default.