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
A p.N92K variant of the GTPase RAC3 disrupts cortical neuron migration and axon elongation.
Sugawara R et al.
The Journal of Biological Chemistry, 2025
The p.R66W Variant in RAC3 Causes Severe Fetopathy Through Variant-Specific Mechanisms.
Sugawara R et al.
Cells, 2024
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Scala M et al.
Brain : a Journal of Neurology, 2022
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