Resolution of SLC6A1 Variable Expressivity in a Multi-Generational Family Using Deep Clinical Phenotyping and Drosophila Models
Kristy L Jay, Nikhita Gogate, Kim Ezell,Jonathan C Andrews,Sharayu V Jangam, Paige I Hall,Hongling Pan, Kelvin Pham,Ryan German, Vanessa Gomez, Emily Jellinek-Russo,Eric Storch, Brain Gene Registry Consortium, Undiagnosed Diseases Network,Shinya Yamamoto,Oguz Kanca,Hugo J Bellen,Herman Dierick,Joy D Cogan,John A Phillips,Rizwan Hamid,Thomas Cassini,Lynette Rives, Jennifer E Posey, Michael F Wangler medRxiv the preprint server for health sciences（2024）
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