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Mutations on the Protein: NP_065574 From Positions: 449 To 486

2
0
1
1



dbSNP Polymorphism: rs4838544
p.VAL461MET
N/A
N/A
N/A


OMIM Disease: 118490.0005
p.ARG482GLY
N/A
N/A
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA






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