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A spontaneous missense mutation in the chromodomain helicase DNA-binding protein 8 (CHD8) gene: a novel association with congenital myasthenic syndrome
Neuropathology and applied neurobiology.2020-10;
Lee CY,Petkova M,Morales-Gonzalez S,Gimber N,Schmoranzer J,Meisel A,B?hmerle W,Stenzel W,Schuelke M,Schwarz JM
