Varaico: Literature-Extracted Genetic Variants

Gene:CUL3
Variant:p.K459_T460Splc
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CUL3

NM_003590.5:p.K459_T460Splc

Associated Papers

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

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

Hyperkalemia in young children: blood pressure checked?

Hollander R et al.

European Journal of Pediatrics, 2016

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."