Varaico: Literature-Extracted Genetic Variants

Gene:TTN
Variant:p.Q22450Splc
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TTN

NM_001267550.2:p.Q22450Splc

Associated Papers

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

Patel AP et al.

Jama Cardiology, 2022

Substrate Characterization and Outcomes of Ventricular Tachycardia Ablation in TTN (Titin) Cardiomyopathy: A Multicenter Study.

Enriquez A et al.

Circulation. Arrhythmia and Electrophysiology, 2021

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Oates EC et al.

Annals of Neurology, 2018

29691892 (PubMed )
Supplement: ANA-83-1105-s002.xlsx › Sheet1

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

Punetha J et al.

Journal of Neuromuscular Diseases, 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."