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Mutations on the Protein: O43772 From Positions: 226 To 241

3
2
0
1



Swiss-Prot Disease: VAR_021819
p.ASP231HIS
N/A
N/A
Carnitine-acylcarnitine translocase deficiency (CACT deficiency)


Swiss-Prot Disease: VAR_021820
p.GLN238ARG
N/A
N/A
Carnitine-acylcarnitine translocase deficiency (CACT deficiency)


OMIM Disease: 613698.0007
p.GLN238ARG
N/A
N/A
CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY






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