@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",
}