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Mutations on the Protein: P10253 From Positions: 714 To 762

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Swiss-Prot Disease: VAR_004310
p.ARG725TRP
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_068630
p.GLN743LYS
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_068629
p.THR737ASN
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Polymorphism: VAR_004311
p.TRP746CYS
N/A
N/A
N/A


Swiss-Prot Disease: VAR_068631
p.TRP746GLY
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_068632
p.TRP746SER
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Polymorphism: VAR_068628
p.VAL718ILE
N/A
N/A
N/A


OMIM Disease: 606800.0005
p.ARG725TRP
N/A
N/A
GLYCOGEN STORAGE DISEASE II, ADULT FORM






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