Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKB
Variant:p.A510D
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CLCNKB

NM_000085.5:p.A510D

Associated Papers

Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.

Vargas-Poussou R et al.

American Journal of Human Genetics, 1998

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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."