Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.E251K
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CASR

NM_000388.4:p.E251K

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: mmc2.xlsx › Table_S7_UKB_variants

Mechanism of sensitivity modulation in the calcium-sensing receptor via electrostatic tuning.

Schamber MR et al.

Nature Communications, 2022

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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."