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- B9f43f67e7a6a76a6e8e7677efdbf8037 NCIT_P378 "NCI" @default.
- B9f43f67e7a6a76a6e8e7677efdbf8037 type Axiom @default.
- B9f43f67e7a6a76a6e8e7677efdbf8037 annotatedProperty IAO_0000115 @default.
- B9f43f67e7a6a76a6e8e7677efdbf8037 annotatedSource NCIT_C181803 @default.
- B9f43f67e7a6a76a6e8e7677efdbf8037 annotatedTarget "Human UBA1 wild-type allele is located in the vicinity of Xp11.3 and is approximately 24 kb in length. This allele, which encodes ubiquitin-like modifier-activating enzyme 1 protein, plays a role in the initial step of ubiquitination. Mutation of the gene is associated with X-linked, infantile spinal muscular atrophy 2 and somatic VEXAS syndrome." @default.