Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A1
Variant:p.Y1070C
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SLC12A1

NM_000338.3:p.Y1070C

Associated Papers

Contributions of rare coding variants in hypotension syndrome genes to population blood pressure variation.

Nandakumar P et al.

Medicine, 2018

30113482 (PubMed )
Supplement: medi-97-e11865-s001.pdf

Rare mutations in the human Na-K-Cl cotransporter (NKCC2) associated with lower blood pressure exhibit impaired processing and transport function.

Monette MY et al.

American Journal of Physiology. Renal Physiology, 2011

Rare mutations in SLC12A1 and SLC12A3 protect against hypertension by reducing the activity of renal salt cotransporters.

Acuña R et al.

Journal of Hypertension, 2011

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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."