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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC12A1

Variant:p.E47K

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SLC12A1

NM_000338.3:p.E47K

hg38:chr15:48207858 G>A

Associated Papers

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

Vaisbich MH et al.

Nephron, 2023

36882007 (PubMed )

Clinical and diagnostic features of Bartter and Gitelman syndromes.

Walsh PR et al.

Clinical Kidney Journal, 2018

29942493 (PubMed )

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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."