RS397515343 GBE1
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What This Variant Does
"CLNSIG=5
Associated Conditions
Glycogen storage disease due to glycogen branching enzyme deficiency
fatal perinatal neuromuscular form
Glycogen storage disease
type IV
Glycogen storage disease IV
classic hepatic
Glycogen storage disease due to glycogen branching enzyme deficiency
fatal perinatal neuromuscular form
Glycogen storage disease
type IV
Glycogen storage disease IV
classic hepatic
Other Variants in GBE1