Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.Q18*
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ARMC5

NM_001105247.2:p.Q18*

Associated Papers

Clinical heterogeneity and imaging-driven genetic screening priorities in patients with radiologically suspected primary bilateral macronodular adrenal hyperplasia.

Xu H et al.

Endocrine Connections, 2025

41042544 (PubMed )
Supplement: supplementary_materials.pdf

Bilateral macronodular adrenocortical disease: a single centre experience.

Ban A et al.

Endocrine Connections, 2025

39887684 (PubMed )
Supplement: supplementary_materials.pdf

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

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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."