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Mutations on the Protein: O75369 From Positions: 130 To 260

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Swiss-Prot Disease: VAR_033072
p.ALA173VAL
N/A
N/A
Atelosteogenesis 1 (AO1)


Swiss-Prot Disease: VAR_033075
p.GLU227LYS
N/A
N/A
Larsen syndrome (LRS)


Swiss-Prot Disease: VAR_033070
p.GLY168SER
N/A
N/A
Larsen syndrome (LRS)


Swiss-Prot Disease: VAR_033071
p.LEU171ARG
N/A
N/A
Boomerang dysplasia (BOOMD)


Swiss-Prot Disease: VAR_033076
p.LEU234VAL
N/A
N/A
Larsen syndrome (LRS)


Swiss-Prot Disease: VAR_033074
p.MET202VAL
N/A
N/A
Atelosteogenesis 3 (AO3)


Swiss-Prot Disease: VAR_033069
p.PHE161CYS
N/A
N/A
Larsen syndrome (LRS)


Swiss-Prot Disease: VAR_033073
p.SER188PRO
N/A
N/A
Atelosteogenesis 1 (AO1)


Swiss-Prot Disease: VAR_033077
p.SER235PRO
N/A
N/A
Boomerang dysplasia (BOOMD)


OMIM Disease: 603381.0006
p.ALA173VAL
N/A
N/A
ATELOSTEOGENESIS, TYPE I


OMIM Disease: 603381.0011
p.GLU227LYS
N/A
N/A
LARSEN SYNDROME


OMIM Disease: 603381.0007
p.MET202VAL
N/A
N/A
ATELOSTEOGENESIS, TYPE I||ATELOSTEOGENESIS, TYPE III, INCLUDED


OMIM Disease: 603381.0004
p.PHE161CYS
N/A
N/A
LARSEN SYNDROME


OMIM Disease: 603381.0010
p.SER235PRO
N/A
N/A
BOOMERANG DYSPLASIA






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