Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.V883M
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CASR

NM_000388.4:p.V883M

Associated Papers

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

Chang JB et al.

American Journal of Human Genetics, 2025

Molecular and clinical insights from studies of calcium-sensing receptor mutations.

Gorvin CM

Journal of Molecular Endocrinology, 2019

Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.

Hannan FM et al.

Human Molecular Genetics, 2012

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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."