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Mutations on the Protein: P56539 From Positions: 23 To 30

6
3
0
3


Swiss-Prot Disease: VAR_011512
p.ARG27GLN
N/A
N/A
Rippling muscle disease (RMD)


Swiss-Prot Disease: VAR_015374
p.ASP28GLU
N/A
N/A
Rippling muscle disease (RMD)


Swiss-Prot Disease: VAR_029540
p.PRO29LEU
N/A
N/A
HyperCKmia (HYPCK)


OMIM Disease: 601253.0007
p.ARG27GLN
N/A
N/A
RIPPLING MUSCLE DISEASE 2||CREATINE PHOSPHOKINASE, ELEVATED SERUM, INCLUDED;;||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C,


OMIM Disease: 601253.0008
p.ASP28GLU
N/A
N/A
RIPPLING MUSCLE DISEASE 2||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C, INCLUDED


OMIM Disease: 601253.0012
p.PRO29LEU
N/A
N/A
CREATINE PHOSPHOKINASE, ELEVATED SERUM






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