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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 et al.
2019 • In American Journal of Human Genetics

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Helbig2019.AJHG.AP2M1.pdf

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