Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.E228G
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CASR

NM_000388.4:p.E228G

Associated Papers

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

Tian L et al.

Chronic Diseases and Translational Medicine, 2024

Autosomal Dominant Hypocalcemia With Atypical Urine Findings Accompanied by Novel CaSR Gene Mutation and VitD Deficiency.

Tsuji T et al.

Journal of the Endocrine Society, 2021

Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis.

Hannan FM et al.

Journal of Molecular Endocrinology, 2016

Novel gain of function mutations of the calcium-sensing receptor in two patients with PTH-deficient hypocalcemia.

Nakajima K et al.

Internal Medicine (tokyo, Japan), 2009

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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."