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- B3b32c5cd08b0dba7cd7a39b9050369a6 NCIT_P378 "NCI" @default.
- B3b32c5cd08b0dba7cd7a39b9050369a6 type Axiom @default.
- B3b32c5cd08b0dba7cd7a39b9050369a6 annotatedProperty IAO_0000115 @default.
- B3b32c5cd08b0dba7cd7a39b9050369a6 annotatedSource NCIT_C185532 @default.
- B3b32c5cd08b0dba7cd7a39b9050369a6 annotatedTarget "A genetic finding indicating that one copy of chromosome 16 has a hemoglobin beta gene (HBB) with a mutation that produces a hemoglobin subunit beta variant, the hemoglobin beta E variant, where the glutamic acid residue at position 27 has been replaced by lysine (BE) and the other copy has HBB loss of function or gene deletion mutations (B0). This genotype is associated with beta thalassemia intermedia." @default.