Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKB
Variant:p.G167V
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CLCNKB

NM_000085.5:p.G167V

Associated Papers

ClC-Kb pore mutation disrupts glycosylation and triggers distal tubular remodeling.

Sharma Y et al.

Jci Insight, 2024

Kidney ion handling genes and their interaction in blood pressure control.

An C et al.

Bioscience Reports, 2022

Functional Study of Novel Bartter's Syndrome Mutations in ClC-Kb and Rescue by the Accessory Subunit Barttin Toward Personalized Medicine.

Sahbani D et al.

Frontiers in Pharmacology, 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."