Varaico: Literature-Extracted Genetic Variants

Gene:NR3C1
Variant:p.L773delFs
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NR3C1

NM_000176.3:p.L773delFs

Associated Papers

Glucocorticoid Resistance Syndrome: A Systematic Review of the Genotypes, Phenotypes, and Their Relationships.

Wang S et al.

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2025

A Novel Pathogenic Variant in the N-Terminal Domain of the Glucocorticoid Receptor, Causing Glucocorticoid Resistance.

Paragliola RM et al.

Molecular Diagnosis & Therapy, 2020

Glucocorticoid resistance syndrome caused by a novel NR3C1 point mutation.

Al Argan R et al.

Endocrine Journal, 2018

An unexpected, mild phenotype of glucocorticoid resistance associated with glucocorticoid receptor gene mutation case report and review of the literature.

Molnár Á et al.

Bmc Medical Genetics, 2018

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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."