Varaico: Literature-Extracted Genetic Variants

Gene:NR3C1
Variant:p.M1V
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NR3C1

NM_000176.3:p.M1V

Associated Papers

One potential hotspot SLC25A20 gene variants in Chinese patients with carnitine-acylcarnitine translocase deficiency.

Li X et al.

Frontiers in Pediatrics, 2022

Familial Forms of Cushing Syndrome in Primary Pigmented Nodular Adrenocortical Disease Presenting with Short Stature and Insidious Symptoms: A Clinical Series.

Navarro Moreno C et al.

Hormone Research in Paediatrics, 2018

Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for Dystonia.

Rittiner JE et al.

Neuron, 2016

Carney complex and other conditions associated with micronodular adrenal hyperplasias.

Almeida MQ et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2010

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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."