Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.A844P
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CASR

NM_000388.4:p.A844P

Associated Papers

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."