Associated Papers
A ubiquitin-based effector-to-inhibitor switch coordinates early brain, craniofacial, and skin development.
Asmar AJ et al.
Nature Communications, 2023
37495603 (PubMed )
Supplement: 41467_2023_40223_MOESM1_ESM.pdf
A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders.
Kato K et al.
Journal of Human Genetics, 2021
De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms.
Nakashima M et al.
Journal of Human Genetics, 2020
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