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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLCNKB

Variant:p.E125K

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CLCNKB

NM_000085.5:p.E125K

hg38:chr1:16047919 G>A

Associated Papers

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."