Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.I212T
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CASR

NM_000388.4:p.I212T

Associated Papers

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

Bircan A et al.

Plos Computational Biology, 2024

Biased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases.

Yang LK et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021

Inherited disorders of calcium homeostasis.

Ramasamy I

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008

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

Tao YX

Pharmacology & Therapeutics, 2006

Familial hypocalciuric hypercalcemia in a woman with metastatic breast cancer: a case report of mistaken identity.

Marcocci C et al.

The Journal of Clinical Endocrinology and Metabolism, 2003

Structure and function of the human calcium-sensing receptor: insights from natural and engineered mutations and allosteric modulators.

Hu J et al.

Journal of Cellular and Molecular Medicine, 0

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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."