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Mutations on the Protein: NP_733822 From Positions: 539 To 571

3
0
0
3


OMIM Disease: 150330.0016
p.ARG552HIS
N/A
N/A
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2


OMIM Disease: 150330.0009
p.ARG541SER
N/A
N/A
CARDIOMYOPATHY, DILATED, 1A


OMIM Disease: 150330.0041
p.SER543LEU
N/A
N/A
CARDIOMYOPATHY, DILATED, 1A||MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL, INCLUDED;;||LIPODYSTROPHY, FA






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