Associated Papers
Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.
Gagoski D et al.
Protein Science : a Publication of the Protein Society, 2025
41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_Lyn
Recurrent RAC3 related neuro-rachopathy in a pair of Indian siblings with novel findings: expanding the spectrum of brain anomalies.
Nerakh G et al.
Clinical Dysmorphology, 2025
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
Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.
Gagoski D et al.
Biorxiv : the Preprint Server for Biology, 2025
39764007 (PubMed )
Supplement: media-1.xlsx › _S6_-_PTMVar_-_cSrc
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.
Priolo M et al.
European Journal of Human Genetics : Ejhg, 2023
High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.
Spataro N et al.
Genes, 2023
36980980 (PubMed )
Supplement: genes-14-00708-s001.zip › TableS4.xls › Sheet1
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Scala M et al.
Brain : a Journal of Neurology, 2022
A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephaly.
Hiraide T et al.
Journal of Human Genetics, 2019
De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.
Costain G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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