Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A2
Variant:p.S170C
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SLC12A2

NM_001046.3:p.S170C

Associated Papers

Thick ascending limb: the Na(+):K (+):2Cl (-) co-transporter, NKCC2, and the calcium-sensing receptor, CaSR.

Gamba G et al.

Pflugers Archiv : European Journal of Physiology, 2009

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."