Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKB
Variant:p.G433E
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CLCNKB

NM_000085.5:p.G433E

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

Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.

Zacchia M et al.

Journal of Nephrology, 2021

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

Han Y et al.

Endocrine, 2020

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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."