Varaico: Literature-Extracted Genetic Variants

Gene:TTN
Variant:p.R109*
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TTN

NM_001267550.2:p.R109*

Associated Papers

Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.

Dzhumaniiazova I et al.

Genes, 2025

41153446 (PubMed )
Supplement: genes-16-01228-s001.zip › genes-3881151-supplementary_tables.xlsx › S1

TTN Variants, Dilated Cardiomyopathy, and Arrhythmic Causes by Autopsy Among Countywide Sudden Deaths.

Yee M et al.

Jacc. Clinical Electrophysiology, 2025

The Potential of Intertwining Gene Diagnostics and Surgery for Mitral Valve Prolapse.

Iske J et al.

Journal of Clinical Medicine, 2023

Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality.

Patel AP et al.

Jama Cardiology, 2022

Exome Sequencing Highlights a Potential Role for Concealed Cardiomyopathies in Youthful Sudden Cardiac Death.

Neves R et al.

Circulation. Genomic and Precision Medicine, 2022

Enrichment of titin-truncating variants in exon 327 in dilated cardiomyopathy and its relevance to reduced nonsense-mediated mRNA decay efficiency.

Kim YG et al.

Frontiers in Genetics, 2022

36685919 (PubMed )
Supplement: Table2.XLSX › Table_S5

Prevalence and potential genetic determinants of young sudden unexplained death victims with suspected arrhythmogenic mitral valve prolapse syndrome.

Giudicessi JR et al.

Heart Rhythm O2, 2021

Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark.

Witting N et al.

Neurology. Genetics, 2017

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-8.xlsx › S_Data_7
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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."