Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.P731R
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ARMC5

NM_001105247.2:p.P731R

Associated Papers

Advancements in the research of the structure, function, and disease-related roles of ARMC5.

Qu Y et al.

Frontiers of Medicine, 2025

Response to letter to the editor on "Germline NGS targeted analysis in adult patients with sporadic adrenocortical carcinoma".

Scatolini M et al.

European Journal of Cancer (oxford, England : 1990), 2025

Letter Re: Germline NGS targeted analysis in adult patients with sporadic adrenocortical carcinoma.

Bouys L et al.

European Journal of Cancer (oxford, England : 1990), 2025

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

Bouys L et al.

Orphanet Journal of Rare Diseases, 2025

Germline targeted next-generation sequencing in patients with adrenal incidentalomas.

Messina E et al.

Frontiers in Endocrinology, 2025

Germline NGS targeted analysis in adult patients with sporadic adrenocortical carcinoma.

Scatolini M et al.

European Journal of Cancer (oxford, England : 1990), 2024

Prevalence and clinical features of armadillo repeat-containing 5 mutations carriers in a single center cohort of patients with bilateral adrenal incidentalomas.

Morelli V et al.

European Journal of Endocrinology, 2023

Identification of predictive criteria for pathogenic variants of primary bilateral macronodular adrenal hyperplasia (PBMAH) gene ARMC5 in 352 unselected patients.

Bouys L et al.

European Journal of Endocrinology, 2022

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

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

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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."