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Mutations on the Protein: NP_001093326 From Positions: 390 To 414

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0
0
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OMIM Disease: 300248.0011
p.ASP406VAL
N/A
N/A
HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL||DYSPLASIA||ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH


OMIM Disease: 300248.0015
p.GLN403TER
N/A
N/A
ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY


OMIM Disease: 300248.0007
p.GLU391TER
N/A
N/A
ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY


OMIM Disease: 300248.0005
p.MET407VAL
N/A
N/A
INCONTINENTIA PIGMENTI, TYPE II






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