Varaico: Literature-Extracted Genetic Variants

Gene:CLDN16
Variant:p.C43Y
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CLDN16

NM_006580.4:p.C43Y

Associated Papers

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

Kausalya PJ et al.

The Journal of Clinical Investigation, 2006

A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting.

Müller D et al.

American Journal of Human Genetics, 2003

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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."