Varaico: Literature-Extracted Genetic Variants

Gene:CUL3
Variant:p.G402_L403Splc
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CUL3

NM_003590.5:p.G402_L403Splc

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

Insights into the diverse mechanisms and effects of variant CUL3-induced familial hyperkalemic hypertension.

Sharma P et al.

Cell Communication and Signaling : Ccs, 2023

Familial Hyperkalemic Hypertension Genotype With a Negative Phenotype: A CUL3 Mosaicism.

Ostrosky-Frid M et al.

American Journal of Hypertension, 2020

Genome-wide discovery of human splicing branchpoints.

Mercer TR et al.

Genome Research, 2015

25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs
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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."