Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.E430*
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ARMC5

NM_001105247.2:p.E430*

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

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

Identification of predictive criteria for pathogenic variants of primary bilateral macronodular adrenal hyperplasia (PBMAH) gene ARMC5 in 352 unselected patients.

Bouys L et al.

European Journal of Endocrinology, 2022

Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.

Zeng B et al.

Frontiers in Oncology, 2021

33889545 (PubMed )
Supplement: Table_5.XLSX › Sheet1

Genetics of primary bilateral macronodular adrenal hyperplasia: a model for early diagnosis of Cushing's syndrome?

Drougat L et al.

European Journal of Endocrinology, 2015

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."