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- B68b328c7422fd448e9ee7a15559c4ab1 NCIT_P378 "NCI" @default.
- B68b328c7422fd448e9ee7a15559c4ab1 type Axiom @default.
- B68b328c7422fd448e9ee7a15559c4ab1 annotatedProperty IAO_0000115 @default.
- B68b328c7422fd448e9ee7a15559c4ab1 annotatedSource NCIT_C150608 @default.
- B68b328c7422fd448e9ee7a15559c4ab1 annotatedTarget "An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as "minicores" on ATPase staining as a result of focal defects in oxidative activity." @default.