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Mutations on the Protein: Q13485 From Positions: 359 To 386

5
3
0
2



Swiss-Prot Disease: VAR_019572
p.ARG361CYS
N/A
N/A
Juvenile polyposis syndrome (JPS)


Swiss-Prot Polymorphism: VAR_036477
p.ARG361HIS
N/A
N/A
N/A


Swiss-Prot Disease: VAR_019573
p.GLY386ASP
N/A
N/A
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT)


OMIM Disease: 600993.0008
p.ARG361CYS
N/A
N/A
JUVENILE POLYPOSIS SYNDROME||JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME,||INCLUDED


OMIM Disease: 600993.0010
p.GLY386ASP
N/A
N/A
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME






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