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Mutations on the Protein: NP_000070 From Positions: 229 To 251

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OMIM Disease: 100690.0013
p.ARG229LEU
N/A
N/A
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE


OMIM Disease: 100690.0009
p.PHE231LEU
N/A
N/A
MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL


OMIM Disease: 100690.0005
p.SER244ILE
N/A
N/A
MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL


OMIM Disease: 100690.0003
p.THR229ILE
N/A
N/A
MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL






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