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ENPhosphoenolpyruvate Carboxykinase Deficiency, Cytosolic (PCKDC)
Alias:
Pepck Deficiency, Cytosolic
Pck1 Deficiency, Cytosolic
Pckdc
Deficiency, Phosphoenolpyruvate Carboxykinase, Cytosolic
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Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic, is also known as pepck deficiency, cytosolic. An important gene associated with Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic is PCK1 (Phosphoenolpyruvate Carboxykinase 1). Affiliated tissues include liver, and related phenotypes are hypoglycemia and hepatic failure
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Basic Information
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MALACARDS
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HPO Frequency
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MGI
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IF
