Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ1
Variant:p.R22M
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KCNJ1

NM_153766.3:p.R22M

Associated Papers

Novel Compound Heterozygous Mutation in the KCNJ1 Gene Causes Bartter Syndrome.

Xiao L et al.

Nephrology (carlton, Vic.), 2025

A novel mutation of KCNJ1 identified in an affected child with nephrolithiasis.

Yang S et al.

Bmc Nephrology, 2022

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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."