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Mutations on the Protein: P13686 From Positions: 195 To 211

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1
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Swiss-Prot Disease: VAR_065923
p.LEU201PRO
N/A
N/A
Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)


dbSNP Polymorphism: rs2229531
p.VAL200MET
N/A
N/A
N/A


OMIM Disease: 171640.0007
p.LEU201PRO
N/A
N/A
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION






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