Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.L723R
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CASR

NM_000388.4:p.L723R

Associated Papers

A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia.

Chang JB et al.

American Journal of Human Genetics, 2025

40664210 (PubMed )
Supplement: mmc1.pdf

Characterization of quinazolinone calcilytic therapy for autosomal dominant hypocalcemia type 1 (ADH1).

Hannan FM et al.

The Journal of Biological Chemistry, 2025

An activating calcium-sensing receptor variant with biased signaling reveals a critical residue for Gα11 coupling.

Benson MR et al.

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

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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."