Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2019.103804
Abstract: Heterotrimeric G proteins are composed of α, β, and γ subunits and are involved in integrating signals between receptors and effector proteins. The 5 human Gβ proteins (encoded by GNB1, GNB2, GNB3, GNB4, and GNB5)… read more here.
Keywords: developmental delay; gnb2 variant; novo gnb2; delay ... See more keywords