Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.R502_T503delFs
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ARMC5

NM_001105247.2:p.R502_T503delFs

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

Genetic alteration of ARMC5 in a patient diagnosed with meningioma and primary macronodular adrenal hyperplasia: a case report.

Jojima T et al.

European Journal of Endocrinology, 2020

Molecular mechanisms of ARMC5 mutations in adrenal pathophysiology.

Stratakis CA et al.

Current Opinion in Endocrine and Metabolic Research, 2019

Molecular and clinical evidence for an ARMC5 tumor syndrome: concurrent inactivating germline and somatic mutations are associated with both primary macronodular adrenal hyperplasia and meningioma.

Elbelt U et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

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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."