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Mutations on the Protein: P56539 From Positions: 45 To 53

5
2
0
3


Swiss-Prot Disease: VAR_011513
p.ALA46THR
N/A
N/A
Rippling muscle disease (RMD)


Swiss-Prot Disease: VAR_011514
p.ALA46VAL
N/A
N/A
Rippling muscle disease (RMD)


OMIM Disease: 601253.0005
p.ALA46THR
N/A
N/A
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C||RIPPLING MUSCLE DISEASE 2, INCLUDED;;||CREATINE PHOSPHOKINASE, ELEVATED SERUM,


OMIM Disease: 601253.0006
p.ALA46VAL
N/A
N/A
RIPPLING MUSCLE DISEASE 2


OMIM Disease: 601253.0015
p.GLU47LYS
N/A
N/A
RIPPLING MUSCLE DISEASE 2






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