Varaico: Literature-Extracted Genetic Variants

Gene:NR3C1
Variant:p.I464delFs
Back to variants list

NR3C1

NM_000176.3:p.I464delFs

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

GENETICS IN ENDOCRINOLOGY: Glucocorticoid resistance syndrome

Vitellius G et al.

European Journal of Endocrinology, 2020

Glucocorticoid resistance syndrome caused by a novel NR3C1 point mutation.

Al Argan R et al.

Endocrine Journal, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."