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Mutations on the Protein: P49638 From Positions: 181 To 195

2
1
0
1





Swiss-Prot Disease: VAR_007858
p.ARG192HIS
N/A
N/A
Ataxia with isolated vitamin E deficiency (AVED)


OMIM Disease: 600415.0005
p.ARG192HIS
N/A
N/A
ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY






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