A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

出版年份 2019 全文链接

标题

作者

关键词

clathrin-mediated endocytosis, developmental and epileptic encephalopathy, synaptic transmission, computational phenotypes, Human Phenotype Ontology, neurodevelopmental disorders

出版物

AMERICAN JOURNAL OF HUMAN GENETICS

Volume -, Issue -, Pages -

出版商

Elsevier BV

发表日期

2019-05-16

DOI

10.1016/j.ajhg.2019.04.001

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