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Mutations on the Protein: P10253 From Positions: 476 To 524

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Swiss-Prot Disease: VAR_068600
p.ALA486PRO
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_029037
p.ASP489ASN
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_068601
p.GLU521GLN
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_004295
p.GLU521LYS
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_004291
p.GLY478ARG
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_068599
p.GLY483VAL
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_004293
p.MET519THR
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_004294
p.MET519VAL
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_046471
p.PRO522ALA
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_068598
p.PRO482ARG
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_068602
p.PRO522SER
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_068603
p.SER523TYR
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_004292
p.TRP481ARG
N/A
N/A
Glycogen storage disease 2 (GSD2)


OMIM Disease: 606800.0003
p.GLU521LYS
N/A
N/A
GLYCOGEN STORAGE DISEASE II, INFANTILE FORM






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