Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.P93fs
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ARMC5

NM_001105247.2:p.P93fs

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

ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences.

Espiard S et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome.

Assié G et al.

The New England Journal of Medicine, 2013

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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."