Varaico: Literature-Extracted Genetic Variants

Gene:NR3C1
Variant:p.K293K
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NR3C1

NM_000176.3:p.K293K

Associated Papers

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

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 820.316

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

Niu N et al.

The Journal of Clinical Endocrinology and Metabolism, 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."