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XB-GENEPAGE-952865
pc.1 pyruvate carboxylase, gene 1
Expression Phenotypes
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Computed annotations: pc.1 assayed (1 source) |
Monarch Ortholog Phenotypes
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Human (17 sources): Clonus, Generalized hypotonia, Global developmental delay, Hepatomegaly, Hyperalaninemia, Hypoglycemia, Hypotonia, Increased circulating lactate concentration, Increased serum pyruvate, Intellectual disability, [+] |
Mouse (5 sources): decreased lean body mass, decreased red blood cell distribution width, increased grip strength, increased total body fat amount, preweaning lethality, complete penetrance |
View all ortholog results at Monarch |