Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.T100I
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CASR

NM_000388.4:p.T100I

Associated Papers

Structural basis for activation and allosteric modulation of full-length calcium-sensing receptor.

Wen T et al.

Science Advances, 2021

Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.

Cardoso L et al.

Human Mutation, 2017

Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciuric hypercalcemia.

Kim ES et al.

Journal of Bone and Mineral Metabolism, 2016

Structural mechanism of ligand activation in human calcium-sensing receptor.

Geng Y et al.

Elife, 2016

Genetic basis of familial isolated hyperparathyroidism: a case series and a narrative review of the literature.

Pontikides N et al.

Journal of Bone and Mineral Metabolism, 2014

Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity.

Lia-Baldini AS et al.

European Journal of Endocrinology, 2013

Mutations of calcium-sensing receptor gene: two novel mutations and overview of impact on calcium homeostasis.

Livadariu E et al.

European Journal of Endocrinology, 2011

Genetic causes of hypercalciuric nephrolithiasis.

Stechman MJ et al.

Pediatric Nephrology (berlin, Germany), 2009

Genetics of hypercalciuric nephrolithiasis: renal stone disease.

Stechman MJ et al.

Annals of the New York Academy of Sciences, 2007

Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications.

Warner J et al.

Journal of Medical Genetics, 2004

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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."