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Mutations on the Protein: P56539 From Positions: 53 To 60

4
2
1
1


dbSNP Polymorphism: rs72546667
p.GLY56SER
N/A
N/A


Swiss-Prot Disease: VAR_029541
p.SER53GLY
N/A
N/A
Rippling muscle disease (RMD)


Swiss-Prot Disease: VAR_010742
p.VAL57MET
N/A
N/A
HyperCKmia (HYPCK)


OMIM Disease: 601253.0003
p.GLY56SER
N/A
N/A
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C, AUTOSOMAL RECESSIVE






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