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Mutations on the Protein: NP_001136405 From Positions: 400 To 433

3
0
0
3



OMIM Disease: 118490.0005
p.ARG400GLY
N/A
N/A
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA


OMIM Disease: 118490.0008
p.SER416LEU
N/A
N/A
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA


OMIM Disease: 118490.0004
p.VAL424LEU
N/A
N/A
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA






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