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- Bcb3dda18ff84c5eaad090a29f40a73a9 NCIT_P378 "NCI" @default.
- Bcb3dda18ff84c5eaad090a29f40a73a9 type Axiom @default.
- Bcb3dda18ff84c5eaad090a29f40a73a9 annotatedProperty IAO_0000115 @default.
- Bcb3dda18ff84c5eaad090a29f40a73a9 annotatedSource NCIT_C201092 @default.
- Bcb3dda18ff84c5eaad090a29f40a73a9 annotatedTarget "Human EMD wild-type allele is located in the vicinity of Xq28 and is approximately 2 kb in length. This allele, which encodes emerin protein, is involved in the association of actin filaments with the nuclear lamina and linking centrosome microtubules to the nuclear envelope. Mutation of the gene is associated with X-linked Emery-Dreifuss muscular dystrophy 1." @default.