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- B5514aa979d7c09b75fac66c62b532bca NCIT_P378 "NCI" @default.
- B5514aa979d7c09b75fac66c62b532bca type Axiom @default.
- B5514aa979d7c09b75fac66c62b532bca annotatedProperty IAO_0000115 @default.
- B5514aa979d7c09b75fac66c62b532bca annotatedSource NCIT_C132323 @default.
- B5514aa979d7c09b75fac66c62b532bca annotatedTarget "Human RHBDF2 wild-type allele is located in the vicinity of 17q25.3 and is approximately 31 kb in length. This allele, which encodes inactive rhomboid protein 2, is involved in the regulation of the secretion of various ligands of the epidermal growth factor receptor. Mutation of the gene is associated with tylosis with esophageal cancer." @default.