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Mutations on the Protein: P07101 From Positions: 475 To 502

3
2
0
1


Swiss-Prot Disease: VAR_014032
p.THR494MET
N/A
N/A
Segawa syndrome autosomal recessive (ARSEGS)


Swiss-Prot Polymorphism: VAR_014033
p.VAL499MET
N/A
N/A
N/A


OMIM Disease: 191290.0005
p.THR494MET
N/A
N/A
SEGAWA SYNDROME, AUTOSOMAL RECESSIVE






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