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- B379b2143721d3ef638c395cf1a3d76a4 NCIT_P378 "NCI" @default.
- B379b2143721d3ef638c395cf1a3d76a4 type Axiom @default.
- B379b2143721d3ef638c395cf1a3d76a4 annotatedProperty IAO_0000115 @default.
- B379b2143721d3ef638c395cf1a3d76a4 annotatedSource NCIT_C116578 @default.
- B379b2143721d3ef638c395cf1a3d76a4 annotatedTarget "Human SERPINA3 wild-type allele is located in the vicinity of 14q32.1 and is approximately 33 kb in length. This allele, which encodes alpha-1-antichymotrypsin protein, plays a role in the negative regulation of the activity of both neutrophil cathepsin G and mast cell chymase. Mutation of the gene is associated with alpha-1-antichymotrypsin deficiency and occlusive cerebrovascular disease. Genetic polymorphisms may be associated with increased susceptibility to either Alzheimer disease or Parkinson disease." @default.