Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKB
Variant:p.S554fs
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CLCNKB

NM_000085.5:p.S554fs

Associated Papers

Clinical, genetic characteristics and outcome of four Chinese patients with Bartter syndrome type 3: Further insight into a genotype-phenotype correlation.

Piao Y et al.

Molecular Genetics and Metabolism Reports, 2024

Mutation spectrum of Chinese patients with Bartter syndrome.

Han Y et al.

Oncotarget, 2017

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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."