Associated Papers
Genetic variants of accessory proteins and G proteins in human genetic disease.
Thompson MD et al.
Critical Reviews in Clinical Laboratory Sciences, 2025
Venus: Elucidating the Impact of Amino Acid Variants on Protein Function Beyond Structure Destabilisation.
Ferla MP et al.
Journal of Molecular Biology, 2022
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.
Tan NB et al.
Journal of Medical Genetics, 2022
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
Hiraide T et al.
Clinical Genetics, 2021
Second patient with GNB2-related neurodevelopmental disease: Further evidence for a gene-disease association.
Lansdon LA et al.
European Journal of Medical Genetics, 2021
Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features.
Fukuda T et al.
European Journal of Medical Genetics, 2020
The Emerging Role of Gβ Subunits in Human Genetic Diseases.
Malerba N et al.
Cells, 2019
Molecular pathogenesis of disease progression in MLL-rearranged AML.
Kotani S et al.
Leukemia, 2019
Select a paper to view details