Varaico: Literature-Extracted Genetic Variants

Gene:CLDN16
Variant:p.S217A
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CLDN16

NM_006580.4:p.S217A

Associated Papers

The RING finger- and PDZ domain-containing protein PDZRN3 controls localization of the Mg2+ regulator claudin-16 in renal tube epithelial cells.

Marunaka K et al.

The Journal of Biological Chemistry, 2017

Impaired paracellular ion transport in the loop of Henle causes familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

Haisch L et al.

Annals of the New York Academy of Sciences, 2012

Biology of claudins.

Angelow S et al.

American Journal of Physiology. Renal Physiology, 2008

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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."