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- Be9d05de28bdd83c8a61120c0e2d022d6 NCIT_P378 "NCI" @default.
- Be9d05de28bdd83c8a61120c0e2d022d6 type Axiom @default.
- Be9d05de28bdd83c8a61120c0e2d022d6 annotatedProperty IAO_0000115 @default.
- Be9d05de28bdd83c8a61120c0e2d022d6 annotatedSource NCIT_C201106 @default.
- Be9d05de28bdd83c8a61120c0e2d022d6 annotatedTarget "Human EVC wild-type allele is located in the vicinity of 4p16.2 and is approximately 118 kb in length. This allele, which encodes EvC complex member EVC protein, is involved in mediating signal transduction between ciliary proteins and the hedgehog signaling pathway. Mutations in the gene are associated with both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis." @default.