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Mutations on the Protein: P21333 From Positions: 1721 To 1853

4
3
0
1




Swiss-Prot Polymorphism: VAR_012835
p.ALA1764THR
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_067251
p.GLU1803LYS
N/A
N/A
N/A


Swiss-Prot Disease: VAR_031312
p.GLY1728CYS
N/A
N/A
Frontometaphyseal dysplasia (FMD)


OMIM Disease: 300017.0022
p.GLY1728CYS
N/A
N/A
OTOPALATODIGITAL SPECTRUM DISORDER






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