Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1/GAT-1 variants
Dina Buitrago Silva, Marena I. Trinidad, Alicia Ljungdahl, Jezrael L. Revalde, Geoffrey Y. Berguig, William Wallace, Cory S. Patrick, Lorenzo Bomba, Michelle R. Arkin, Shan Dong, Karol Estrada, Keino Hutchinson, Jonathan H. LeBowitz, Avner Schlessinger, Katrine M. Johannesen, , Arthur Wüster
The paper investigates the functional consequences of SLC6A1 variants, finding haploinsufficiency underlies neurodevelopmental phenotypes and identifying missense residues sensitive to substitution.
medRxiv · Mar 9, 2022 · PreprintGenetic & Genomic Medicine