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De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila

Hyung-Lok Chung,Patrick Rump,Di Lu,Megan R Glassford,Jung-Wan Mok,Jawid Fatih,Adily Basal,Paul C Marcogliese,Oguz Kanca,Michele Rapp,Johanna M Fock,Erik-Jan Kamsteeg,James R Lupski,Austin Larson, Mark C Haninbal,Hugo Bellen,Tamar Harel

HUMAN MOLECULAR GENETICS（2022）

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