Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.R764*
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ARMC5

NM_001105247.2:p.R764*

Associated Papers

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

Qu Y et al.

Frontiers of Medicine, 2025

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

Bouys L et al.

Orphanet Journal of Rare Diseases, 2025

KDM1A genetic alterations, a rare cause of primary bilateral macronodular adrenal hyperplasia, strongly associated with food-dependent Cushing's syndrome: results of its systematic germline screening in 301 index cases and genotype/phenotype correlation.

Bouys L et al.

European Journal of Endocrinology, 2025

Somatic Molecular Heterogeneity in Bilateral Macronodular Adrenocortical Disease (BMAD) Differs Among the Pathological Subgroups.

Violon F et al.

Endocrine Pathology, 2024

Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) patient with ARMC5 mutations.

Tang P et al.

Bmc Endocrine Disorders, 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

Primary macronodular adrenal hyperplasia (PMAH) can be generated by a new ARMC5 germline variant (c.52C>T (p.Gln18X)).

Zhang F et al.

Endocrine Journal, 2020

ARMC5 mutations in familial and sporadic primary bilateral macronodular adrenal hyperplasia.

Yu L et al.

Plos One, 2018

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."