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- B1f31e23901db54b74513710aee1b7d48 NCIT_P378 "NCI" @default.
- B1f31e23901db54b74513710aee1b7d48 type Axiom @default.
- B1f31e23901db54b74513710aee1b7d48 annotatedProperty IAO_0000115 @default.
- B1f31e23901db54b74513710aee1b7d48 annotatedSource NCIT_C181820 @default.
- B1f31e23901db54b74513710aee1b7d48 annotatedTarget "Human HUWE1 wild-type allele is located in the vicinity of Xp11.22 and is approximately 155 kb in length. This allele, which encodes E3 ubiquitin-protein ligase HUWE1 protein, plays a role in the ubiquitination and proteasomal degradation of target proteins involved in apoptosis, tumor suppression, chromatin remodeling and DNA replication and repair. Mutations in the gene are associated with Turner type X-linked syndromic cognitive disability." @default.