Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.S107fs
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ARMC5

NM_001105247.2:p.S107fs

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

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

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

Molecular mechanisms of ARMC5 mutations in adrenal pathophysiology.

Stratakis CA et al.

Current Opinion in Endocrine and Metabolic Research, 2019

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

Yu L et al.

Plos One, 2018

ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome.

Assié G et al.

The New England Journal of Medicine, 2013

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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."