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ENCarnosinemia
Alias:
Carnosinase Deficiency
Homocarnosinase Deficiency
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Carnosinemia, also known as carnosinase deficiency, is related to homocarnosinosis and attention deficit-hyperactivity disorder. An important gene associated with Carnosinemia is CNSN (Carnosinemia (Carnosinase)). Affiliated tissues include skeletal muscle and brain, and related phenotypes are intellectual disability and eeg abnormality
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MALACARDS
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