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Mutations on the Protein: Q7LGC8 From Positions: 287 To 311

4
2
0
2


Swiss-Prot Disease: VAR_021413
p.ARG304GLN
N/A
N/A
Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD)


Swiss-Prot Disease: VAR_047858
p.LEU307PRO
N/A
N/A
Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD)


OMIM Disease: 603799.0001
p.ARG304GLN
N/A
N/A
SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS


OMIM Disease: 603799.0004
p.LEU307PRO
N/A
N/A
SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS






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