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- B695ce6c29ca03aa9b48dcd9cf6e49bd5 NCIT_P378 "NCI" @default.
- B695ce6c29ca03aa9b48dcd9cf6e49bd5 type Axiom @default.
- B695ce6c29ca03aa9b48dcd9cf6e49bd5 annotatedProperty IAO_0000115 @default.
- B695ce6c29ca03aa9b48dcd9cf6e49bd5 annotatedSource NCIT_C198629 @default.
- B695ce6c29ca03aa9b48dcd9cf6e49bd5 annotatedTarget "Human CHRNE wild-type allele is located in the vicinity of 17p13.2 and is approximately 37 kb in length. This allele, which encodes acetylcholine receptor subunit epsilon protein, is involved in cholinergic receptor-dependent ion transport activity. Mutation of the gene is associated with the following congenital myasthenic syndrome subtypes: slow-channel type 4A, fast-channel type 4B and acetylcholine receptor deficiency type 4C." @default.