Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.Y825F
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CASR

NM_000388.4:p.Y825F

Associated Papers

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

Bircan A et al.

Plos Computational Biology, 2024

The role of calcium-sensing receptor signaling in regulating transepithelial calcium transport.

Tan RSG et al.

Experimental Biology and Medicine (maywood, N.j.), 2021

A cell function study on calcium regulation of a novel calcium-sensing receptor mutation (p.Tyr825Phe).

Moon JE et al.

Annals of Pediatric Endocrinology & Metabolism, 2021

De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism.

Moon JE et al.

Annals of Pediatric Endocrinology & Metabolism, 2018

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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."