Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKB
Variant:p.E192_N193Splc
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CLCNKB

NM_000085.5:p.E192_N193Splc

Associated Papers

Genotype, phenotype, and follow-up in Taiwanese patients with salt-losing tubulopathy associated with SLC12A3 mutation.

Tseng MH et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

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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."