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
The variety of genetic defects explains the phenotypic heterogeneity of Familial Hyperkalemic Hypertension.
Hureaux M et al.
Kidney International Reports, 2021
34622103 (PubMed )
Supplement: mmc1.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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