Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.G323D
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ARMC5

NM_001105247.2:p.G323D

Associated Papers

A Global Approach to the Long-Term Follow-up of 17 Families with Bilateral Macronodular Adrenal Disease.

Charchar HLS et al.

The Journal of Clinical Endocrinology and Metabolism, 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

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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."