Varaico: Literature-Extracted Genetic Variants

Gene:CUL3
Variant:p.K459_T460Splc
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CUL3

NM_003590.5:p.K459_T460Splc

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

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."