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Mutations on the Protein: O43918 From Positions: 245 To 273

3
1
1
1




dbSNP Polymorphism: rs34397615
p.PRO252LEU
N/A
N/A
N/A


Swiss-Prot Disease: VAR_026484
p.PRO252LEU
N/A
N/A
Autoimmune polyendocrine syndrome 1 (APS1)


OMIM Disease: 607358.0001
p.ARG257TER
N/A
N/A
AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I






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