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Mutations on the Protein: NP_075561 From Positions: 1279 To 1439

2
0
1
1


dbSNP Polymorphism: rs6859950
p.ILE1437THR
N/A
N/A
N/A


OMIM Disease: 614571.0001
p.ARG1336TRP
N/A
N/A
JOUBERT SYNDROME 17






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