Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.W514*
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LMNA

NM_170707.4:p.W514*

Associated Papers

Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure.

Mora-Ayestarán N et al.

European Heart Journal, 2025

40878535 (PubMed )
Supplement: ehaf605_supplementary_data.zip › S13._Variant_classification.xlsx › Variant_classification

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

Epigenetics in LMNA-Related Cardiomyopathy.

Wang Y et al.

Cells, 2023

Diagnostic Yield of Genetic Testing in Young Patients With Atrioventricular Block of Unknown Cause.

Resdal Dyssekilde J et al.

Journal of the American Heart Association, 2022

Pregnancy and Progression of Cardiomyopathy in Women With LMNA Genotype-Positive.

Castrini AI et al.

Journal of the American Heart Association, 2022

35434999 (PubMed )
Supplement: JAH3-11-e024960-s001.pdf

Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome'.

Atalaia A et al.

Journal of Neuromuscular Diseases, 2021

Myocardial fibrosis in arrhythmogenic cardiomyopathy: a genotype-phenotype correlation study.

Segura-Rodríguez D et al.

European Heart Journal. Cardiovascular Imaging, 2020

Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers.

Nishiuchi S et al.

Circulation. Cardiovascular Genetics, 2017

LMNA cardiomyopathy detected in Japanese arrhythmogenic right ventricular cardiomyopathy cohort.

Kato K et al.

Journal of Cardiology, 2016

Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.

Captur G et al.

Open Heart, 0

30402260 (PubMed )
Supplement: openhrt-2018-000915supp001.docx
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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."