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
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var
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
Familial Hyperkalemic Hypertension Genotype With a Negative Phenotype: A CUL3 Mosaicism.
Ostrosky-Frid M et al.
American Journal of Hypertension, 2020
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