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- Beed53f53fb36d44f93de01694f4ddfb3 hasDbXref "https://www.ncbi.nlm.nih.gov/books/NBK1385/" @default.
- Beed53f53fb36d44f93de01694f4ddfb3 type Axiom @default.
- Beed53f53fb36d44f93de01694f4ddfb3 annotatedProperty IAO_0000115 @default.
- Beed53f53fb36d44f93de01694f4ddfb3 annotatedSource MONDO_0016146 @default.
- Beed53f53fb36d44f93de01694f4ddfb3 annotatedTarget "A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals" @default.