Missense variants in GABAA receptor beta2 subunit disrupt receptor biogenesis and cause loss of function
Xi Chen, Yajuan Wang, Ting‐Wei Mu
This study investigates four missense variants in the GABRB2 gene, showing they disrupt GABAAR beta2 subunit biogenesis and cause loss of function through proteostasis defects.
bioRxiv · Mar 9, 2025 · PreprintCell Biology