Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKB
Variant:p.E199*
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CLCNKB

NM_000085.5:p.E199*

Associated Papers

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

Vaisbich MH et al.

Nephron, 2023

A mosaic mutation in the CLCNKB gene causing Bartter syndrome: A case report.

Zhou L et al.

Frontiers in Pediatrics, 2023

Thirteen novel CLCNKB variants and genotype/phenotype association study in 42 Chinese patients with Bartter syndrome type 3.

Han Y et al.

Endocrine, 2020

A novel mutation associated with Type III Bartter syndrome: A report of five cases.

Li Y et al.

Molecular Medicine Reports, 2019

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."