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- B52ac755f25a223d4330e4c00780d218c NCIT_P378 "NCI" @default.
- B52ac755f25a223d4330e4c00780d218c type Axiom @default.
- B52ac755f25a223d4330e4c00780d218c annotatedProperty IAO_0000115 @default.
- B52ac755f25a223d4330e4c00780d218c annotatedSource NCIT_C201166 @default.
- B52ac755f25a223d4330e4c00780d218c annotatedTarget "Human FKRP wild-type allele is located in the vicinity of 19q13.32 and is approximately 32 kb in length. This allele, which encodes ribitol 5-phosphate transferase FKRP, is involved in the transfer of ribitol-phosphate certain glycoproteins. Mutations in the gene are associated with FKRP-related congenital muscular dystrophy, Walker-Warburg syndrome and limb-girdle muscular dystrophy type 2I." @default.