Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.L394P
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ARMC5

NM_001105247.2:p.L394P

Associated Papers

A Global Approach to the Long-Term Follow-up of 17 Families with Bilateral Macronodular Adrenal Disease.

Charchar HLS et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

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

ARMC5 mutations are associated with high levels of proliferating cell nuclear antigen and the presence of the serotonin receptor 5HT4R in PMAH nodules.

Conceição BBD et al.

Archives of Endocrinology and Metabolism, 2020

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."