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Mutations on the Protein: Q02318 From Positions: 478 To 504

2
1
0
1




Swiss-Prot Disease: VAR_001304
p.ARG479CYS
N/A
N/A
Cerebrotendinous xanthomatosis (CTX)


OMIM Disease: 606530.0014
p.ARG479GLY
N/A
N/A
CEREBROTENDINOUS XANTHOMATOSIS






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