Varaico: Literature-Extracted Genetic Variants

Gene:CALCA
Variant:p.P39A
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CALCA

NM_001741.3:p.P39A

Associated Papers

Molecular Basis of the Extracellular Ligands Mediated Signaling by the Calcium Sensing Receptor.

Zhang C et al.

Frontiers in Physiology, 2016

Effect of the calcimimetic R-568 [3-(2-chlorophenyl)-N-((1R)-1-(3-methoxyphenyl)ethyl)-1-propanamine] on correcting inactivating mutations in the human calcium-sensing receptor.

Lu JY et al.

The Journal of Pharmacology and Experimental Therapeutics, 2009

[Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism caused by inactivating mutations of calcium-sensing receptor].

Watanabe S et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002

Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.

Hendy GN et al.

Human Mutation, 2000

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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."