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Mutations on the Protein: Q8IWY9 From Positions: 552 To 614

3
1
1
1


Swiss-Prot Disease: VAR_017218
p.ASN599SER
N/A
N/A
Congenital dyserythropoietic anemia 1 (CDA1)


dbSNP Polymorphism: rs12917189
p.GLN596ARG
N/A
N/A


OMIM Disease: 607465.0003
p.ASN598SER
N/A
N/A
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I






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