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Mutations on the Protein: P68133 From Positions: 283 To 302

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Swiss-Prot Disease: VAR_015586
p.ASP288GLY
N/A
N/A
Nemaline myopathy 3 (NEM3)


Swiss-Prot Disease: VAR_032918
p.ASP294VAL
N/A
N/A
Myopathy, congenital, with fiber-type disproportion (CFTD)


Swiss-Prot Disease: VAR_062472
p.MET285LYS
N/A
N/A
Nemaline myopathy 3 (NEM3)


OMIM Disease: 102610.0011
p.ASP292VAL
N/A
N/A
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION






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