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Mutations on the Protein: NP_001138727 From Positions: 224 To 240

4
0
0
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OMIM Disease: 300248.0011
p.ASP239VAL
N/A
N/A
HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL||DYSPLASIA||ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH


OMIM Disease: 300248.0015
p.GLN236TER
N/A
N/A
ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY


OMIM Disease: 300248.0007
p.GLU224TER
N/A
N/A
ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY


OMIM Disease: 300248.0005
p.MET240VAL
N/A
N/A
INCONTINENTIA PIGMENTI, TYPE II






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