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A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
Helbig, Ingo, Lopez-Hernandez, Tania, Shor, Oded, Galer, Peter, Ganesan, Shiva, Pendziwiat, Manuela, Rademacher, Annika, Ellis, Colin A., Hümpfer, Nadja, Schwarz, Niklas, Seiffert, Simone, Peeden, JosLanguage:
english
Journal:
The American Journal of Human Genetics
DOI:
10.1016/j.ajhg.2019.04.001
Date:
May, 2019
File:
PDF, 2.21 MB
english, 2019