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Mutations on the Protein: P40763 From Positions: 385 To 424

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2
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Swiss-Prot Disease: VAR_037371
p.ARG423GLN
N/A
N/A
Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES)


Swiss-Prot Disease: VAR_037370
p.THR389ILE
N/A
N/A
Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES)


OMIM Disease: 102582.0004
p.ARG423GLN
N/A
N/A
HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT


OMIM Disease: 102582.0007
p.THR389ILE
N/A
N/A
HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT






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