Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.S147L
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CASR

NM_000388.4:p.S147L

Associated Papers

Evolutionary history of calcium-sensing receptors unveils hyper/hypocalcemia-causing mutations.

Bircan A et al.

Plos Computational Biology, 2024

A Novel Variant in the Calcium-Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low-to-Normal PTH.

Majumdar SK et al.

Case Reports in Endocrinology, 2020

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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."