Varaico: Literature-Extracted Genetic Variants

Gene:KLHL3
Variant:p.H498Y
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KLHL3

NM_017415.3:p.H498Y

Associated Papers

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

Liu X et al.

Frontiers in Pediatrics, 2023

Summary of Known Genetic and Epigenetic Modification Contributed to Hypertension.

Pratamawati TM et al.

International Journal of Hypertension, 2023

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

Zhang R et al.

Bmc Endocrine Disorders, 2021

Hypertension Accompanied by Hyperaldosteronism, Hyperkalemia, and Hyperchloremic Acidosis: A Case Report and Literature Review.

Yang Y et al.

Case Reports in Endocrinology, 2020

A novel mutation in KLHL3 gene causes familial hyperkalemic hypertension.

Kelly D et al.

Qjm : Monthly Journal of the Association of Physicians, 2016

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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."