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Mutations on the Protein: P02708 From Positions: 241 To 265

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1
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Swiss-Prot Disease: VAR_000284
p.ASN262LYS
N/A
N/A
Myasthenic syndrome, congenital, slow-channel (SCCMS)


OMIM Disease: 100690.0013
p.ARG254LEU
N/A
N/A
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE


OMIM Disease: 100690.0009
p.PHE256LEU
N/A
N/A
MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL


OMIM Disease: 100690.0003
p.THR254ILE
N/A
N/A
MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL


OMIM Disease: 100690.0006
p.VAL249PHE
N/A
N/A
MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL






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