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- B1aef182370ad7506625a9c084100658d NCIT_P378 "NCI" @default.
- B1aef182370ad7506625a9c084100658d type Axiom @default.
- B1aef182370ad7506625a9c084100658d annotatedProperty IAO_0000115 @default.
- B1aef182370ad7506625a9c084100658d annotatedSource NCIT_C185532 @default.
- B1aef182370ad7506625a9c084100658d 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a hemoglobin subunit beta variant, the hemoglobin beta E variant, where the glutamic acid residue at position 27 has been replaced by lysine (BE) and the other copy has HBB loss of function or gene deletion mutations (B0).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.