Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.L614L
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ARMC5

NM_001105247.2:p.L614L

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

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Cukier HN et al.

Npj Parkinson's Disease, 2022

35768426 (PubMed )
Supplement: 41531_2022_346_MOESM2_ESM.xlsx › SupTab1

ARMC5 variants in PRKAR1A-mutated patients modify cortisol levels and Cushing's syndrome.

Maria AG et al.

Endocrine-related Cancer, 2020

ARMC5 mutation analysis in patients with primary aldosteronism and bilateral adrenal lesions.

Mulatero P et al.

Journal of Human Hypertension, 2016

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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."