Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.A83fs
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ARMC5

NM_001105247.2:p.A83fs

Associated Papers

Advancements in the research of the structure, function, and disease-related roles of ARMC5.

Qu Y et al.

Frontiers of Medicine, 2025

The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update.

Bouys L et al.

Orphanet Journal of Rare Diseases, 2025

Cullin 3 targets the tumor suppressor gene ARMC5 for ubiquitination and degradation.

Cavalcante IP et al.

Endocrine-related Cancer, 2020

Molecular mechanisms of ARMC5 mutations in adrenal pathophysiology.

Stratakis CA et al.

Current Opinion in Endocrine and Metabolic Research, 2019

ARMC5 mutations are a frequent cause of primary macronodular adrenal Hyperplasia.

Alencar GA et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

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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."