RS766450555 GFPT1
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Associated Conditions
Inborn genetic diseases
Congenital myasthenic syndrome 12
GFPT1-related myopathy with protein aggregates and rimmed vacuoles
Inborn genetic diseases
Congenital myasthenic syndrome 12
GFPT1-related myopathy with protein aggregates and rimmed vacuoles
Other Variants in GFPT1