Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.L220fs
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ARMC5

NM_001105247.2:p.L220fs

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

Molecular mechanisms of ARMC5 mutations in adrenal pathophysiology.

Stratakis CA et al.

Current Opinion in Endocrine and Metabolic Research, 2019

Genetics of primary bilateral macronodular adrenal hyperplasia: a model for early diagnosis of Cushing's syndrome?

Drougat L et al.

European Journal of Endocrinology, 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."