Varaico: Literature-Extracted Genetic Variants

Gene:KLHL3
Variant:p.T110A
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KLHL3

NM_017415.3:p.T110A

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

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

A case report of pseudohypoaldosteronism type II with a homozygous KLHL3 variant accompanied by hyperthyroidism.

Zhang R et al.

Bmc Endocrine Disorders, 2021

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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."