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Mutations on the Protein: NP_001244303 From Positions: 316 To 344

2
0
0
2



OMIM Disease: 150330.0002
p.ARG341TRP
N/A
N/A
EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT


OMIM Disease: 150330.0044
p.VAL328MET
N/A
N/A
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL






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