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

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14 Scopus citations

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Biochemistry, Genetics and Molecular Biology