Genetic & Genomic MedicinemedRxivPreprint
Resolution of SLC6A1 variable expressivity in a multi-generational family using deep clinical phenotyping and Drosophila models
Kristy L. Jay, Nikhita Gogate, Kimberly M. Ezell…·Michael F. Wangler
The paper identifies a hypomorphic SLC6A1 variant causing variable expressivity in neurodevelopmental disorders using clinical phenotyping and Drosophila models.
DOI 10.1101/2024.09.27.24314092