Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.A110fs
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ARMC5

NM_001105247.2:p.A110fs

Associated Papers

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

Qu Y et al.

Frontiers of Medicine, 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

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

Genetic Alterations in Benign Adrenal Tumors.

Pitsava G et al.

Biomedicines, 2022

Genetic alteration of ARMC5 in a patient diagnosed with meningioma and primary macronodular adrenal hyperplasia: a case report.

Jojima T et al.

European Journal of Endocrinology, 2020

ARMC5 Primary Bilateral Macronodular Adrenal Hyperplasia Associated with a Meningioma: A Family Report.

Ferreira MJ et al.

Case Reports in Endocrinology, 2020

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

Genetics of tumors of the adrenal cortex.

Bonnet-Serrano F et al.

Endocrine-related Cancer, 2018

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."