Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKB
Variant:p.S445fs
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CLCNKB

NM_000085.5:p.S445fs

Associated Papers

Machine Learning to Identify Genetic Salt-Losing Tubulopathies in Hypokalemic Patients.

Wan ER et al.

Kidney International Reports, 2023

36938092 (PubMed )
Supplement: mmc1.pdf

Genetic diagnosis of Bartter syndrome in Iranian patients and detection of a novel homozygous CLCNKB mutation.

Nojehdeh ST et al.

Clinical Case Reports, 2022

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

Li Y et al.

Molecular Medicine Reports, 2019

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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."