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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLCNKB

Variant:p.E490G

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CLCNKB

NM_000085.5:p.E490G

hg38:chr1:16052258 A>G

Associated Papers

Clinical analysis of salt-wasting in infants due to genetic aetiology.

Xie Y et al.

Endokrynologia Polska, 2024

40091330 (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."