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Mutations on the Protein: Q9Y6K9 From Positions: 398 To 419

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Swiss-Prot Disease: VAR_011324
p.ASP406VAL
N/A
N/A
Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID)


Swiss-Prot Disease: VAR_011326
p.CYS417ARG
N/A
N/A
Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID)


Swiss-Prot Disease: VAR_011325
p.CYS417PHE
N/A
N/A
Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID)


Swiss-Prot Disease: VAR_026496
p.CYS417TYR
N/A
N/A
Immunodeficiency, NEMO-related, without anhidrotic ectodermal dysplasia (NEMOID)


Swiss-Prot Disease: VAR_009182
p.MET407VAL
N/A
N/A
Incontinentia pigmenti (IP)






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