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Mutations on the Protein: P10253 From Positions: 524 To 571

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Swiss-Prot Disease: VAR_068607
p.ASN570LYS
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_068606
p.CYS558SER
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_018091
p.GLY549ARG
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_070018
p.HIS568LEU
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_068605
p.ILE557PHE
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_018092
p.LEU552PRO
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_068604
p.PHE525TYR
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_004297
p.PRO545LEU
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_004298
p.SER566PRO
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_004296
p.SER529VAL
N/A
N/A
Glycogen storage disease 2 (GSD2)


OMIM Disease: 606800.0013
p.PRO545LEU
N/A
N/A
GLYCOGEN STORAGE DISEASE II, ADULT FORM


OMIM Disease: 606800.0009
p.SER529VAL
N/A
N/A
GLYCOGEN STORAGE DISEASE II, ADULT FORM






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