Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.P747fs
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CASR

NM_000388.4:p.P747fs

Associated Papers

Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.

Tao YX

Pharmacology & Therapeutics, 2006

The carboxyl terminus of the human calcium receptor. Requirements for cell-surface expression and signal transduction.

Ray K et al.

The Journal of Biological Chemistry, 1997

Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells.

Pearce SH et al.

The Journal of Clinical Investigation, 1996

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.

Pearce SH et al.

The Journal of Clinical Investigation, 1995

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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."