Varaico: Literature-Extracted Genetic Variants

Gene:NR3C1
Variant:p.L248V
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NR3C1

NM_000176.3:p.L248V

Associated Papers

A novel point mutation in helix 11 of the ligand-binding domain of the human glucocorticoid receptor gene causing generalized glucocorticoid resistance.

Charmandari E et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

Characterization of a temperature-sensitive mutation in the hormone binding domain of the human estrogen receptor. Studies in cell extracts and intact cells and their implications for hormone-dependent transcriptional activation.

Reese JC et al.

The Journal of Biological Chemistry, 1992

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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."