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Mutations on the Protein: Q0VG99 From Positions: 119 To 139

3
2
0
1





Swiss-Prot Polymorphism: VAR_046780
p.LEU125VAL
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_061257
p.VAL138MET
N/A
N/A
N/A


OMIM Disease: 605195.0003
p.LEU125VAL
N/A
N/A
SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE






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