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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLCNKB

Variant:p.L7fs

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CLCNKB

NM_000085.5:p.L7fs

hg38:chr1:16044511 CTG>N

Associated Papers

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

Vaisbich MH et al.

Nephron, 2023

36882007 (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."