Varaico: Literature-Extracted Genetic Variants

Gene:KLHL3
Variant:p.R431W
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KLHL3

NM_017415.3:p.R431W

Associated Papers

Pseudo-Hypoaldosteronism Type 2 due to New Variants of KLHL3 Gene Diagnosed in an Adult Woman With Very High Sensitivity to Hydrochlorothiazide.

Giusti M et al.

Clinical Case Reports, 2025

Single nucleotide polymorphism-based biomarker in primary hypertension.

Laxmi et al.

European Journal of Pharmacology, 2024

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

Liu X et al.

Frontiers in Pediatrics, 2023

A Novel Homozygous KLHL3 Mutation as a Cause of Autosomal Recessive Pseudohypoaldosteronism Type II Diagnosed Late in Life.

Etges A et al.

Nephron, 2022

[KLHL3 and CULLIN-3: new genes involved in familial hypertension].

Louis-Dit-Picard H et al.

Medecine Sciences : M/s, 0

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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."