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A deep intronic DLG4 variant resulting in DLG4-related synaptopathy |
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| Authors: | Amanda M. Levy Mythily Ganapathi Wendy K. Chung Zeynep Tümer |
| Affiliation: | 1. Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark;2. Department of Pathology & Cell Biology, Columbia University Irving Medical Center, New York City, New York, USA;3. Department of Pediatrics, Columbia University Irving Medical Center, New York City, New York, USA |
| Abstract: | |
| Keywords: | alternative splicing deep intronic variant DLG4 DLG4-related synaptopathy epilepsy intellectual disability neurodevelopmental disorder PSD-95 pseudoexon |