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Mutations on the Protein: NP_000042 From Positions: 0 To 153

3
0
1
2



dbSNP Polymorphism: rs2234997
p.ASP126GLU
N/A
N/A
N/A


OMIM Disease: 607585.0008
p.ARG35TER
N/A
N/A
ATAXIA-TELANGIECTASIA


OMIM Disease: 607585.0032
p.SER49CYS
N/A
N/A
BREAST CANCER, SUSCEPTIBILITY TO






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