Varaico: Literature-Extracted Genetic Variants

Gene:NR3C1
Variant:p.E22E
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NR3C1

NM_000176.3:p.E22E

Associated Papers

Glucocorticoid Receptor Gene (NR3C1) Polymorphisms and Metabolic Syndrome: Insights from the Mennonite Population.

Kolb KL et al.

Genes, 2023

Uncovering a multitude of human glucocorticoid receptor variants: an expansive survey of a single gene.

Leventhal SM et al.

Bmc Genetics, 2019

Significant prevalence of NR3C1 mutations in incidentally discovered bilateral adrenal hyperplasia: results of the French MUTA-GR Study.

Vitellius G et al.

European Journal of Endocrinology, 2018

Analysis of BCLI, N363S and ER22/23EK Polymorphisms of the Glucocorticoid Receptor Gene in Adrenal Incidentalomas.

Reimondo G et al.

Plos One, 2016

Human glucocorticoid receptor alpha gene (NR3C1) pharmacogenomics: gene resequencing and functional genomics.

Niu N et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

Genotype-phenotype correlation in a family with primary cortisol resistance: possible modulating effect of the ER22/23EK polymorphism.

Raef H et al.

European Journal of Endocrinology, 2008

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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."