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- Bf2790c61829b3313a49280f0531c1ca5 hasDbXref "PMID:28017374" @default.
- Bf2790c61829b3313a49280f0531c1ca5 hasDbXref "https://clinicalgenome.org/affiliation/40031/" @default.
- Bf2790c61829b3313a49280f0531c1ca5 type Axiom @default.
- Bf2790c61829b3313a49280f0531c1ca5 annotatedProperty IAO_0000115 @default.
- Bf2790c61829b3313a49280f0531c1ca5 annotatedSource MONDO_0015023 @default.
- Bf2790c61829b3313a49280f0531c1ca5 annotatedTarget "Congenital myopathy caused by pathogenic mutations in MYPN that lead to a wide spectrum of phenotypes. Patients with mutations in this gene often experience muscle weakness, facial weakness, and sometimes cardiac and respiratory issues. Histological findings on skeletal muscle biopsy are variable with nemaline bodies and cap-like lesions." @default.