Associated Papers
CDC42 missense mutations and human diseases: from neurodevelopmental disorders to autoinflammation.
Yasumi T
Journal of Biochemistry, 2025
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 Novel CDC42 Variant with Impaired Thymopoiesis, IL-7R Signaling, PAK1 Binding, and TCR Repertoire Diversity.
Assing K et al.
Journal of Clinical Immunology, 2023
A CDC42 Stop-loss Mutation in a Patient with Relapsing Polychondritis and Autoinflammation.
van Wijck RTA et al.
Journal of Clinical Immunology, 2023
36040659 (PubMed )
Supplement: 10875_2022_1344_MOESM1_ESM.xlsx › Sheet1
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6
Pancytopenia, Recurrent Infection, Poor Wound Healing, Heterotopia of the Brain Probably Associated with A Candidate Novel de Novo CDC42 Gene Defect: Expanding the Molecular and Phenotypic Spectrum.
Asiri A et al.
Genes, 2021
Well-Differentiated Papillary Mesothelioma of the Peritoneum Is Genetically Distinct from Malignant Mesothelioma.
Shrestha R et al.
Cancers, 2020
32545767 (PubMed )
Supplement: cancers-12-01568-s001.zip › cancers-821594-suppl-Tables_.xlsx › Table_S6
Well-differentiated papillary mesothelioma of the peritoneum is genetically defined by mutually exclusive mutations in TRAF7 and CDC42.
Stevers M et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019
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