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Mutations on the Protein: NP_005563 From Positions: 515 To 543

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OMIM Disease: 150330.0046
p.ALA529THR
N/A
N/A
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY


OMIM Disease: 150330.0037
p.ALA529VAL
N/A
N/A
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY


OMIM Disease: 150330.0026
p.ARG527CYS
N/A
N/A
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY


OMIM Disease: 150330.0053
p.ARG541GLY
N/A
N/A
CARDIOMYOPATHY, DILATED, 1A


OMIM Disease: 150330.0021
p.ARG527HIS
N/A
N/A
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY||MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL, INCLUD


OMIM Disease: 150330.0003
p.ARG527PRO
N/A
N/A
EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT||LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2, INCLUDED


OMIM Disease: 150330.0004
p.LEU530PRO
N/A
N/A
EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT


OMIM Disease: 150330.0033
p.LYS542ASN
N/A
N/A
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY






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