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Mutations on the Protein: O43520 From Positions: 375 To 438

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Swiss-Prot Polymorphism: VAR_043051
p.ARG384HIS
N/A
N/A
N/A


Swiss-Prot Disease: VAR_043054
p.ARG412PRO
N/A
N/A
Cholestasis, progressive familial intrahepatic, 1 (PFIC1)


Swiss-Prot Polymorphism: VAR_043055
p.GLU429ALA
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_043052
p.ILE393VAL
N/A
N/A
N/A


Swiss-Prot Disease: VAR_043053
p.SER403TYR
N/A
N/A
Cholestasis, progressive familial intrahepatic, 1 (PFIC1)






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