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Keywords: Rare mutation
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Journal Articles
Dis Model Mech (2020) 13 (6): dmm042390.
Published: 3 June 2020
... provided that the original work is properly attributed. Summary: A Drosophila model of a human YPEL3 variant was generated and used to discover that the human variant alters neuronal communication through a loss-of-function mechanism. YPEL3 Pathogenicity Rare mutation Synaptic...
Includes: Supplementary data