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Mutations on the Protein: Q02318 From Positions: 372 To 398

3
2
0
1




Swiss-Prot Disease: VAR_001303
p.ARG395CYS
N/A
N/A
Cerebrotendinous xanthomatosis (CTX)


Swiss-Prot Disease: VAR_012285
p.ARG395SER
N/A
N/A
Cerebrotendinous xanthomatosis (CTX)


OMIM Disease: 606530.0007
p.ARG372GLN
N/A
N/A
CEREBROTENDINOUS XANTHOMATOSIS






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