Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.S820Y
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CASR

NM_000388.4:p.S820Y

Associated Papers

A new publicly available database of human calcium-sensing receptor variants that disrupt calcium homeostasis.

Conigrave AD et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025

Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization.

Li D 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."