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Mutations on the Protein: P02708 From Positions: 289 To 313

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3
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Swiss-Prot Disease: VAR_021208
p.PHE301LEU
N/A
N/A
Myasthenic syndrome, congenital, fast-channel (FCCMS)


Swiss-Prot Disease: VAR_000285
p.THR299ILE
N/A
N/A
Myasthenic syndrome, congenital, slow-channel (SCCMS)


Swiss-Prot Disease: VAR_021207
p.VAL294PHE
N/A
N/A
Myasthenic syndrome, congenital, slow-channel (SCCMS)


OMIM Disease: 100690.0016
p.ARG313TRP
N/A
N/A
MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL






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