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Mutations on the Protein: Q9BYV8 From Positions: 19 To 37

3
1
0
2


Swiss-Prot Polymorphism: VAR_067053
p.MET36THR
N/A
N/A
N/A


OMIM Disease: 610523.0005
p.MET36THR
N/A
N/A
JOUBERT SYNDROME 9/15, DIGENIC


OMIM Disease: 610523.0007
p.SER28TER
N/A
N/A
JOUBERT SYNDROME 15






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