Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.S895fs
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CASR

NM_000388.4:p.S895fs

Associated Papers

CASRdb: A Publicly Accessible Comprehensive Database for Disease-Associated Calcium-Sensing Receptor Variants.

Charoenngam N et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Autosomal dominant hypocalcemia due to a truncation in the C-tail of the calcium-sensing receptor.

Maruca K et al.

Molecular and Cellular Endocrinology, 2017

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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."