Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKB
Variant:p.L444_S445delFs
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CLCNKB

NM_000085.5:p.L444_S445delFs

Associated Papers

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

Nojehdeh ST et al.

Clinical Case Reports, 2022

Genetic basis of Bartter syndrome in Korea.

Lee BH et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2012

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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."