Associated Papers
Targeted modification of cis-elements in the CUL3 gene to restore exon 9 inclusion for treating Gordon syndrome.
Shi X et al.
Human Genomics, 2025
41121296 (PubMed )
Supplement: 40246_2025_820_MOESM1_ESM.pdf
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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