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Mutations on the Protein: P68133 From Positions: 320 To 339

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Swiss-Prot Disease: VAR_062473
p.GLU336ALA
N/A
N/A
Nemaline myopathy 3 (NEM3)


Swiss-Prot Disease: VAR_062474
p.LYS338GLU
N/A
N/A
Nemaline myopathy 3 (NEM3)


Swiss-Prot Disease: VAR_062475
p.LYS338ILE
N/A
N/A
Nemaline myopathy 3 (NEM3)


Swiss-Prot Disease: VAR_032919
p.PRO334SER
N/A
N/A
Myopathy, congenital, with fiber-type disproportion (CFTD)


OMIM Disease: 102610.0010
p.GLU334ALA
N/A
N/A
MYOPATHY, ACTIN, CONGENITAL, WITH CORES


OMIM Disease: 102610.0016
p.LYS328ASN
N/A
N/A
NEMALINE MYOPATHY 3


OMIM Disease: 102610.0013
p.PRO332SER
N/A
N/A
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION






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