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Mutations on the Protein: Q9NZC9 From Positions: 620 To 668

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Swiss-Prot Disease: VAR_021375
p.ARG645CYS
N/A
N/A
Schimke immuno-osseous dysplasia (SIOD)


Swiss-Prot Disease: VAR_021374
p.ARG644TRP
N/A
N/A
Schimke immuno-osseous dysplasia (SIOD)


Swiss-Prot Polymorphism: VAR_021378
p.ASP649ASN
N/A
N/A
N/A


Swiss-Prot Disease: VAR_021376
p.LYS647GLN
N/A
N/A
Schimke immuno-osseous dysplasia (SIOD)


Swiss-Prot Disease: VAR_021377
p.LYS647THR
N/A
N/A
Schimke immuno-osseous dysplasia (SIOD)


OMIM Disease: 606622.0005
p.ARG645CYS
N/A
N/A
SCHIMKE IMMUNOOSSEOUS DYSPLASIA






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