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, Jonathan C. Andrews, Sharayu V. Jangam, Paige I. Hall, Hongling Pan, Kelvin Pham, Ryan J. German, Vanessa Gomez, Emily R. Jellinek, Eric A. Storch, Undiagnosed Diseases Network, Shinya Yamamoto, Oguz Kanca, , Michael F. Wangler
The paper identifies a hypomorphic SLC6A1 variant causing variable expressivity in neurodevelopmental disorders using clinical phenotyping and Drosophila models.
medRxiv · Sep 27, 2024 · PreprintGenetic & Genomic Medicine