Varaico: Literature-Extracted Genetic Variants

Gene:CLDN16
Variant:p.A139T
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CLDN16

NM_006580.4:p.A139T

Associated Papers

Report of a family with two different hereditary diseases leading to early nephrocalcinosis.

Vargas-Poussou R et al.

Pediatric Nephrology (berlin, Germany), 2008

Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of Claudin-16.

Kausalya PJ et al.

The Journal of Clinical Investigation, 2006

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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."