Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKB
Variant:p.P530L
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CLCNKB

NM_000085.5:p.P530L

Associated Papers

Bartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts.

Vaisbich MH et al.

Nephron, 2023

Bartter syndrome representing digenic-based salt-losing tubulopathies presumably accelerated by renal insufficiency.

Umene R et al.

Cen Case Reports, 2020

Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome.

Lee JW et al.

Journal of Korean Medical Science, 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."