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- B4e88ca0e5bb6bf31a9f661507e06e01e NCIT_P378 "NCI" @default.
- B4e88ca0e5bb6bf31a9f661507e06e01e NCIT_P381 "UniProt" @default.
- B4e88ca0e5bb6bf31a9f661507e06e01e type Axiom @default.
- B4e88ca0e5bb6bf31a9f661507e06e01e annotatedProperty IAO_0000115 @default.
- B4e88ca0e5bb6bf31a9f661507e06e01e annotatedSource NCIT_C74977 @default.
- B4e88ca0e5bb6bf31a9f661507e06e01e annotatedTarget "Human ATRX wild-type allele is located within Xq13.1-q21.1 and is approximately 281 kb in length. This allele, which encodes transcriptional regulator ATRX protein, is involved in the modulation of both transcription and chromatin structure. Mutations in the gene are associated with X-linked alpha-thalassemia/mental retardation syndrome, mental retardation syndromic X-linked with hypotonic facies syndrome type 1, and alpha-thalassemia myelodysplasia syndrome." @default.