Systems BiologybioRxivPreprint
Exploring human rare disease variants from a multidimensional perspective illuminates receptor - G protein coupling diversity
Theo Redfern-Nichols, Shannon L. O’Brien, Xianglin Huang…·Maria Martí-Solano
This study investigates rare disease variants in Gs, a G protein, using multidimensional approaches to reveal how mutations affect receptor-Gs coupling and signaling defects.
DOI 10.1101/2024.01.16.575841