Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.Q228*
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ARMC5

NM_001105247.2:p.Q228*

Associated Papers

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

Bouys L et al.

Orphanet Journal of Rare Diseases, 2025

Prevalence and clinical features of armadillo repeat-containing 5 mutations carriers in a single center cohort of patients with bilateral adrenal incidentalomas.

Morelli V et al.

European Journal of Endocrinology, 2023

A novel nonsense mutation in ARMC5 causes primary bilateral macronodular adrenocortical hyperplasia.

He WT et al.

Bmc Medical Genomics, 2021

Extensive ARMC5 genetic variance in primary bilateral macronodular adrenal hyperplasia that started with exophthalmos: a case report.

Jin P et al.

Journal of Medical Case Reports, 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."