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- Bddecf56f53bb0d749dbfbaacb558ee0c hasDbXref "PMID:27854229" @default.
- Bddecf56f53bb0d749dbfbaacb558ee0c hasDbXref "PMID:29691892" @default.
- Bddecf56f53bb0d749dbfbaacb558ee0c hasDbXref "https://clinicalgenome.org/affiliation/40031/" @default.
- Bddecf56f53bb0d749dbfbaacb558ee0c type Axiom @default.
- Bddecf56f53bb0d749dbfbaacb558ee0c annotatedProperty IAO_0000115 @default.
- Bddecf56f53bb0d749dbfbaacb558ee0c annotatedSource MONDO_0100175 @default.
- Bddecf56f53bb0d749dbfbaacb558ee0c annotatedTarget "A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes." @default.