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- Ba2cd18d2ed5d64784b7160b99f4331d5 hasDbXref "PMID:24692096" @default.
- Ba2cd18d2ed5d64784b7160b99f4331d5 hasDbXref "https://clinicalgenome.org/affiliation/40031/" @default.
- Ba2cd18d2ed5d64784b7160b99f4331d5 type Axiom @default.
- Ba2cd18d2ed5d64784b7160b99f4331d5 annotatedProperty IAO_0000115 @default.
- Ba2cd18d2ed5d64784b7160b99f4331d5 annotatedSource MONDO_0100108 @default.
- Ba2cd18d2ed5d64784b7160b99f4331d5 annotatedTarget "TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle γ-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation." @default.