Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ1
Variant:p.V47M
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KCNJ1

NM_153766.3:p.V47M

Associated Papers

Bartter Syndrome Presenting as Arginine-Vasopressin Resistance: A Report of 2 Cases.

Sousa M et al.

The American Journal of Case Reports, 2024

Bartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts.

Vaisbich MH et al.

Nephron, 2023

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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."