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

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

Sharma P et al.

Cell Communication and Signaling : Ccs, 2023

Aldosterone defects in infants and young children with hyperkalemia: A single center retrospective study.

Liu X et al.

Frontiers in Pediatrics, 2023

Gordon syndrome caused by a CUL3 mutation in a patient with short stature in Korea: a case report.

Park JH et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2022

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

Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome).

Glover M et al.

Clinical Science (london, England : 1979), 2014

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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."