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Mutations on the Protein: Q02127 From Positions: 198 To 217

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Swiss-Prot Disease: VAR_062415
p.ARG199CYS
N/A
N/A
Postaxial acrofacial dysostosis (POADS)


Swiss-Prot Disease: VAR_062416
p.GLY202ALA
N/A
N/A
Postaxial acrofacial dysostosis (POADS)


Swiss-Prot Disease: VAR_062417
p.GLY202ASP
N/A
N/A
Postaxial acrofacial dysostosis (POADS)


OMIM Disease: 126064.0009
p.ARG199CYS
N/A
N/A
MILLER SYNDROME


OMIM Disease: 126064.0005
p.GLY202ALA
N/A
N/A
MILLER SYNDROME


OMIM Disease: 126064.0006
p.GLY202ASP
N/A
N/A
MILLER SYNDROME






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