Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.R502fs
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ARMC5

NM_001105247.2:p.R502fs

Associated Papers

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 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

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

Analysis of ARMC5 expression in human tissues.

Berthon A et al.

Molecular and Cellular Endocrinology, 2017

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

Genetics of primary macronodular adrenal hyperplasia.

Candida Barisson Villares Fragoso M et al.

Presse Medicale (paris, France : 1983), 0

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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."