Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.V159Splc
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ARMC5

NM_001105247.2:p.V159Splc

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

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

Bouys L et al.

Orphanet Journal of Rare Diseases, 2025

Neuroradiological features of patients with bilateral macronodular adrenocortical disease and meningiomas associated or not with genetic variants of ARMC5- a case series.

Salame AAM et al.

Journal of Neuro-oncology, 2024

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

A multicenter experience on the prevalence of ARMC5 mutations in patients with primary bilateral macronodular adrenal hyperplasia: from genetic characterization to clinical phenotype.

Albiger NM et al.

Endocrine, 2017

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."