Varaico: Literature-Extracted Genetic Variants

Gene:CLDN16
Variant:p.P221L
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CLDN16

NM_006580.4:p.P221L

Associated Papers

Functional activities of mutant calcium-sensing receptors determine clinical presentations in patients with autosomal dominant hypocalcemia.

Kinoshita Y et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

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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."