@article{Lee2020, author = {Lee, Chae Y. and Petkova, Mina and Morales‐Gonzalez, Susanne and Gimber, Niclas and Schmoranzer, Jan and Meisel, Andreas and Böhmerle, Wolfgang and Stenzel, Werner and Schuelke, Markus and Schwarz, Jana M.}, year = {2020}, language = {eng}, copyright = {https://creativecommons.org/licenses/by-nc-nd/4.0/}, title = {A spontaneous missense mutation in the chromodomain helicase DNA‐binding protein 8 (CHD8) gene: a novel association with congenital myasthenic syndrome}, volume = {46}, issn = {0305-1846}, pages = {588 - 601}, url = "http://dx.doi.org/10.17169/refubium-34045", }