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Mutations on the Protein: Q76LX8 From Positions: 214 To 285

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Swiss-Prot Disease: VAR_027116
p.ALA250VAL
N/A
N/A
Thrombotic thrombocytopenic purpura congenital (TTP)


Swiss-Prot Disease: VAR_027117
p.ARG268PRO
N/A
N/A
Thrombotic thrombocytopenic purpura congenital (TTP)


Swiss-Prot Disease: VAR_067775
p.ASP235HIS
N/A
N/A
Thrombotic thrombocytopenic purpura congenital (TTP)


Swiss-Prot Disease: VAR_027115
p.HIS234GLN
N/A
N/A
Thrombotic thrombocytopenic purpura congenital (TTP)


Swiss-Prot Disease: VAR_067774
p.LEU232GLN
N/A
N/A
Thrombotic thrombocytopenic purpura congenital (TTP)


Swiss-Prot Disease: VAR_067776
p.SER263CYS
N/A
N/A
Thrombotic thrombocytopenic purpura congenital (TTP)


OMIM Disease: 604134.0020
p.ALA250VAL
N/A
N/A
THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL


OMIM Disease: 604134.0014
p.ARG268PRO
N/A
N/A
THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL






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