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Mutations on the Protein: NP_000042 From Positions: 2598 To 2750

2
0
0
2















OMIM Disease: 607585.0011
p.LEU2656PRO
N/A
N/A
ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY


OMIM Disease: 607585.0028,607585.0029
p.TYR2677CYS
N/A
N/A
ATAXIA-TELANGIECTASIA VARIANT






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