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- B05be89b6cda868642ca77e3f209efead NCIT_P378 "NCI" @default.
- B05be89b6cda868642ca77e3f209efead type Axiom @default.
- B05be89b6cda868642ca77e3f209efead annotatedProperty IAO_0000115 @default.
- B05be89b6cda868642ca77e3f209efead annotatedSource NCIT_C201109 @default.
- B05be89b6cda868642ca77e3f209efead annotatedTarget "Human EVC2 wild-type allele is located in the vicinity of 4p16.2 and is approximately 181 kb in length. This allele, which encodes limbin protein, plays a role in the ciliary hedgehog signaling pathway. Mutations in the gene are associated with both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis." @default.