Associated Papers
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1
Diverse Clinical Presentation of RAC1-Related Intellectual Developmental Disorder.
Upadia J et al.
American Journal of Medical Genetics. Part A, 2025
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.
Priolo M et al.
European Journal of Human Genetics : Ejhg, 2023
A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association.
Seyama R et al.
Scientific Reports, 2023
Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.
Banka S et al.
Brain : a Journal of Neurology, 2022
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.
Reijnders MRF et al.
American Journal of Human Genetics, 2017
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