Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.G143R
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CASR

NM_000388.4:p.G143R

Associated Papers

Genetic testing for hereditary hyperparathyroidism and familial hypocalciuric hypercalcaemia in a large UK cohort.

Mariathasan S et al.

Clinical Endocrinology, 2020

Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.

Ittisoponpisan S et al.

Journal of the Endocrine Society, 2018

30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1

Calcium-sensing receptor mutations and denaturing high performance liquid chromatography.

Cole DE et al.

Journal of Molecular Endocrinology, 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."