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- B22eb7eadd143fe31491cad93226d732c NCIT_P378 "NCI" @default.
- B22eb7eadd143fe31491cad93226d732c type Axiom @default.
- B22eb7eadd143fe31491cad93226d732c annotatedProperty IAO_0000115 @default.
- B22eb7eadd143fe31491cad93226d732c annotatedSource NCIT_C102952 @default.
- B22eb7eadd143fe31491cad93226d732c annotatedTarget "Human OTX2 wild-type allele is located in the vicinity of 14q22.3 and is approximately 10 kb in length. This allele, which encodes homeobox protein OTX2, plays a role in the positive regulation of gene expression during embryonic pattern formation. Mutation of the gene is associated with both microphthalmia syndromic type 5 and pituitary hormone deficiency combined type 6." @default.