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- B1143ee6eb9f6c8f945b01103c27eb137 NCIT_P378 "NCI" @default.
- B1143ee6eb9f6c8f945b01103c27eb137 type Axiom @default.
- B1143ee6eb9f6c8f945b01103c27eb137 annotatedProperty IAO_0000115 @default.
- B1143ee6eb9f6c8f945b01103c27eb137 annotatedSource NCIT_C201089 @default.
- B1143ee6eb9f6c8f945b01103c27eb137 annotatedTarget "Human EFHC1 wild-type allele is located in the vicinity of 6p12.2 and is approximately 168 kb in length. This allele, which encodes EF-hand domain-containing protein 1, plays a role in cell division and neuronal migration. Mutation of the gene is associated with increased susceptibility to both juvenile myoclonic epilepsy 1 and juvenile absence epilepsy 1." @default.