GeneticsPLoS GeneticsPeer-reviewed
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay
Susan M. Hiatt, Matthew B. Neu, Ryne C. Ramaker…·Gregory M. Cooper
The paper identifies de novo mutations in RALA, a RAS-like GTPase, as a cause of intellectual disability and developmental delay, showing their functional impact on GTP binding and effector interactions.
35 citations