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Mutations on the Protein: NP_001093326 From Positions: 414 To 438

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0
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OMIM Disease: 300248.0009
p.CYS417ARG
N/A
N/A
ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY||HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTO


OMIM Disease: 300248.0010
p.CYS417PHE
N/A
N/A
ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY


OMIM Disease: 300248.0002
p.TER420TRP
N/A
N/A
ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS,||AND LYMPHEDEMA






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