Drug Information Portal. U.S. National Library of Medicine. "Ganciclovir sodium". Drug Information Portal. U.S. National Library of Medicine.
The mutation has high penetrance and variable expression, which means that nearly all people with the gene show signs of the condition, but these signs can range from very mild to very obvious. Diagnosis
Epidemiology
The actual incidence of this disease is not known, but only 243 cases have been reported in the scientific literature, suggesting an incidence of on the order of one affected person in ten million people. References


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