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Mutations on the Protein: P40763 From Positions: 616 To 655

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Swiss-Prot Disease: VAR_037376
p.PHE621VAL
N/A
N/A
Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES)


Swiss-Prot Disease: VAR_037377
p.THR622ILE
N/A
N/A
Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES)


Swiss-Prot Disease: VAR_037378
p.VAL637LEU
N/A
N/A
Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES)


Swiss-Prot Disease: VAR_037379
p.VAL637MET
N/A
N/A
Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES)


OMIM Disease: 102582.0006
p.VAL637MET
N/A
N/A
HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT






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