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Mutations on the Protein: P10253 From Positions: 428 To 476

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Swiss-Prot Disease: VAR_029036
p.ALA445PRO
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_029035
p.ARG437CYS
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_068596
p.PRO457HIS
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_029040
p.PRO457LEU
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Polymorphism: VAR_068597
p.TYR458CYS
N/A
N/A
N/A


Swiss-Prot Disease: VAR_018089
p.TYR455PHE
N/A
N/A
Glycogen storage disease 2 (GSD2)






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