RS80338736 GAMT
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What This Variant Does
"Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man....
Associated Conditions
Deficiency of guanidinoacetate methyltransferase
Cerebral creatine deficiency syndrome
Inborn genetic diseases
Deficiency of guanidinoacetate methyltransferase
Cerebral creatine deficiency syndrome
Inborn genetic diseases
Other Variants in GAMT