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Mutations on the Protein: P00558 From Positions: 313 To 334

4
2
0
2





Swiss-Prot Disease: VAR_006085
p.ASP315ASN
N/A
N/A
Phosphoglycerate kinase 1 deficiency (PGK1D)


Swiss-Prot Disease: VAR_006086
p.CYS316ARG
N/A
N/A
Phosphoglycerate kinase 1 deficiency (PGK1D)


OMIM Disease: 311800.0007
p.CYS315ARG
N/A
N/A
PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MICHIGAN


OMIM Disease: 311800.0012
p.SER319ASN
N/A
N/A
PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MURCIA






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