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Mutations on the Protein: NP_005563 From Positions: 57 To 86

4
0
1
3



dbSNP Polymorphism: rs28933090
p.LEU85ARG
N/A
N/A
N/A


OMIM Disease: 150330.0005
p.ARG60GLY
N/A
N/A
CARDIOMYOPATHY, DILATED, 1A||LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2, INCLUDED


OMIM Disease: 150330.0052
p.LEU59ARG
N/A
N/A
CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTRIPIC HYPOGONADISM


OMIM Disease: 150330.0006
p.LEU85ARG
N/A
N/A
CARDIOMYOPATHY, DILATED, 1A






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