Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant

European Journal of Human Genetics, Published online: 16 September 2019; doi:10.1038/s41431-019-0506-2Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant

Source: European Journal of Human Genetics - September 15, 2019 Category: Genetics & Stem Cells Authors: Sunitha Balaraju Ana T öpf Grace McMacken Veeramani Preethish Kumar Astrid Pechmann Helen Roper Seena Vengalil Kiran Polavarapu Saraswati Nashi Niranjan Prakash Mahajan Ines A. Barbosa Charu Deshpande Robert W. Taylor Judith Cossins David Beeson Steven L Source Type: research