Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.F14Y
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ARMC5

NM_001105247.2:p.F14Y

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

Unravelling the Genetic Basis of Primary Aldosteronism.

Mourtzi N et al.

Nutrients, 2021

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

Maria AG et al.

Endocrine-related Cancer, 2020

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › TSG

Genetics of primary hyperaldosteronism.

Dutta RK et al.

Endocrine-related Cancer, 2016

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

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

Mulatero P et al.

Journal of Human Hypertension, 2016

Primary Aldosteronism and ARMC5 Variants.

Zilbermint M et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences.

Espiard S et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation.

Faucz FR et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

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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."