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Mutations on the Protein: NP_001138575 From Positions: 229 To 248

2
0
0
2





OMIM Disease: 603109.0005
p.ARG235LYS
N/A
N/A
LOEYS-DIETZ SYNDROME, TYPE 3


OMIM Disease: 603109.0001
p.ARG243TRP
N/A
N/A
LOEYS-DIETZ SYNDROME, TYPE 3






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