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Mutations on the Protein: P13686 From Positions: 211 To 228

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Swiss-Prot Disease: VAR_065924
p.GLY215ARG
N/A
N/A
Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)


dbSNP Polymorphism: rs2229532
p.VAL221ILE
N/A
N/A
N/A


OMIM Disease: 171640.0002
p.GLN223TER
N/A
N/A
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION


OMIM Disease: 171640.0004
p.GLY215ARG
N/A
N/A
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION






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