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Mutations on the Protein: Q9Y6K9 From Positions: 314 To 335

5
3
0
2


Swiss-Prot Disease: VAR_042666
p.ALA323PRO
N/A
N/A
Incontinentia pigmenti (IP)


Swiss-Prot Disease: VAR_031960
p.ARG319GLN
N/A
N/A
X-linked familial atypical micobacteriosis 1 (AMCBX1)


Swiss-Prot Disease: VAR_031959
p.GLU315ALA
N/A
N/A
X-linked familial atypical micobacteriosis 1 (AMCBX1)


OMIM Disease: 300248.0015
p.GLN335TER
N/A
N/A
ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY


OMIM Disease: 300248.0007
p.GLU323TER
N/A
N/A
ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY






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