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Mutations on the Protein: P00558 From Positions: 146 To 167

4
2
0
2





Swiss-Prot Disease: VAR_006078
p.ASP164VAL
N/A
N/A
Phosphoglycerate kinase 1 deficiency (PGK1D)


Swiss-Prot Disease: VAR_006077
p.GLY158VAL
N/A
N/A
Phosphoglycerate kinase 1 deficiency (PGK1D)


OMIM Disease: 311800.0013
p.ASP164VAL
N/A
N/A
PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, AMIENS


OMIM Disease: 311800.0006
p.GLY157VAL
N/A
N/A
PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, SHIZUOKA






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