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- B673ad936b98c4f9a8eeed72ffb7cf91f hasDbXref "PMID:23413262" @default.
- B673ad936b98c4f9a8eeed72ffb7cf91f hasDbXref "https://clinicalgenome.org/affiliation/40031/" @default.
- B673ad936b98c4f9a8eeed72ffb7cf91f type Axiom @default.
- B673ad936b98c4f9a8eeed72ffb7cf91f annotatedProperty IAO_0000115 @default.
- B673ad936b98c4f9a8eeed72ffb7cf91f annotatedSource MONDO_0100196 @default.
- B673ad936b98c4f9a8eeed72ffb7cf91f annotatedTarget "A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree." @default.