RS1011196447 GFPT1

Health Risk Chr 2:69354314
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Associated Conditions
Congenital myasthenic syndrome 12
Abnormality of the musculature
GFPT1-related myasthenic syndrome
GFPT1-related disorder
Congenital myasthenic syndrome 4C
Congenital myasthenic syndrome 12
Abnormality of the musculature
GFPT1-related myasthenic syndrome
GFPT1-related disorder
Congenital myasthenic syndrome 4C
Other Variants in GFPT1
rs201322234 rs1671535986 rs1574066341 rs1574058076 rs1574066599 rs199678034 rs765856240 rs375455794 rs922548333 rs372725563
Ask Dr. Hemsworth about this variant