RS397515344 GBE1
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What This Variant Does
"CLNSIG=5
Associated Conditions
Glycogen storage disease due to glycogen branching enzyme deficiency
congenital neuromuscular form
Glycogen storage disease
type IV
Glycogen storage disease IV
classic hepatic
Glycogen storage disease due to glycogen branching enzyme deficiency
congenital neuromuscular form
Glycogen storage disease
type IV
Glycogen storage disease IV
classic hepatic
Other Variants in GBE1