Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.G108insFs
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ARMC5

NM_001105247.2:p.G108insFs

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

New pathogenic variants in ARMC5 gene in a series of Italian patients affected by primary bilateral macronodular adrenocortical hyperplasia (PBMAH).

Giacché M et al.

Molecular Genetics & Genomic Medicine, 2023

Gene Mutations in Cushing's Syndrome.

Ojha U et al.

Molecular Syndromology, 2023

A novel pathogenic variant of ARMC5 in a patient with primary bilateral macronodular adrenal hyperplasia: a case report.

Wang W et al.

Bmc Endocrine Disorders, 2022

ARMC5 is part of an RPB1-specific ubiquitin ligase implicated in adrenal hyperplasia.

Lao L et al.

Nucleic Acids Research, 2022

Molecular mechanisms of ARMC5 mutations in adrenal pathophysiology.

Stratakis CA et al.

Current Opinion in Endocrine and Metabolic Research, 2019

A novel germline ARMC5 mutation in a patient with bilateral macronodular adrenal hyperplasia: a case report.

Liu Q et al.

Bmc Medical Genetics, 2018

ARMC5 mutations in a large French-Canadian family with cortisol-secreting β-adrenergic/vasopressin responsive bilateral macronodular adrenal hyperplasia.

Bourdeau I et al.

European Journal of Endocrinology, 2016

Molecular and clinical evidence for an ARMC5 tumor syndrome: concurrent inactivating germline and somatic mutations are associated with both primary macronodular adrenal hyperplasia and meningioma.

Elbelt U 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."