RS111033640 GALT
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What This Variant Does
"aka c.-119_-116del
Associated Conditions
Classical galactosemia
homozygous Duarte-type
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Inborn genetic diseases
Galactosemia
Classical galactosemia
homozygous Duarte-type
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Inborn genetic diseases
Galactosemia
Other Variants in GALT