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Mutations on the Protein: P10253 From Positions: 904 To 952

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Swiss-Prot Disease: VAR_068635
p.LEU935PRO
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_070020
p.PRO913ARG
N/A
N/A
Glycogen storage disease 2 (GSD2)


dbSNP Polymorphism: rs1800315
p.THR927ILE
N/A
N/A
N/A


Swiss-Prot Disease: VAR_004318
p.VAL949ASP
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_068634
p.VAL916PHE
N/A
N/A
Glycogen storage disease 2 (GSD2)






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