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Mutations on the Protein: Q9H3D4 From Positions: 544 To 578

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4
0
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Swiss-Prot Disease: VAR_020881
p.CYS561GLY
N/A
N/A
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC)


Swiss-Prot Disease: VAR_035128
p.ILE549THR
N/A
N/A
Ectodermal dysplasia, Rapp-Hodgkin type (EDRH)


Swiss-Prot Disease: VAR_020879
p.LEU553PHE
N/A
N/A
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC)


Swiss-Prot Polymorphism: VAR_020880
p.SER560ALA
N/A
N/A
N/A


OMIM Disease: 603273.0019
p.ARG545PRO
N/A
N/A
RAPP-HODGKIN SYNDROME






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