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Mutations on the Protein: P10253 From Positions: 666 To 714

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Swiss-Prot Disease: VAR_046479
p.ARG702CYS
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_004307
p.ARG672GLN
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_068626
p.ARG702LEU
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_046478
p.ARG672THR
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_004308
p.ARG672TRP
N/A
N/A
Glycogen storage disease 2 (GSD2)


dbSNP Polymorphism: rs1800309
p.GLU689LYS
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_068627
p.THR711ARG
N/A
N/A
N/A


OMIM Disease: 606800.0011
p.GLU689LYS
N/A
N/A
ACID ALPHA-GLUCOSIDASE, ALLELE 4






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