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Mutations on the Protein: P35499 From Positions: 1469 To 1561

4
3
0
1



Swiss-Prot Disease: VAR_054951
p.ALA1481ASP
N/A
N/A
Myotonia SCN4A-related (MYOSCN4A)


Swiss-Prot Disease: VAR_054950
p.MET1476ILE
N/A
N/A
Myotonia SCN4A-related (MYOSCN4A)


Swiss-Prot Disease: VAR_054949
p.PHE1473SER
N/A
N/A
Paramyotonia congenita of von Eulenburg (PMC)


OMIM Disease: 603967.0026
p.MET1476ILE
N/A
N/A
PARAMYOTONIA CONGENITA






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