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- Be98dac5382491780eb1cdf442b244bf3 hasDbXref "PMID:28017374" @default.
- Be98dac5382491780eb1cdf442b244bf3 hasDbXref "https://clinicalgenome.org/affiliation/40031/" @default.
- Be98dac5382491780eb1cdf442b244bf3 type Axiom @default.
- Be98dac5382491780eb1cdf442b244bf3 annotatedProperty IAO_0000115 @default.
- Be98dac5382491780eb1cdf442b244bf3 annotatedSource MONDO_0015023 @default.
- Be98dac5382491780eb1cdf442b244bf3 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.