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Mutations on the Protein: NP_001157790 From Positions: 130 To 259

5
0
0
5






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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