Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.W818L
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CASR

NM_000388.4:p.W818L

Associated Papers

Molecular regulation of calcium-sensing receptor (CaSR)-mediated signaling.

Tian L et al.

Chronic Diseases and Translational Medicine, 2024

The Calcium-Sensing Receptor Is Essential for Calcium and Bicarbonate Sensitivity in Human Spermatozoa.

Boisen IM et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Four cases of autosomal dominant hypocalcaemia with hypercalciuria including two with novel mutations in the calcium-sensing receptor gene.

Schouten BJ et al.

Annals of Clinical Biochemistry, 2011

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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."