Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.R192L
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TNNI3

NM_000363.5:p.R192L

Associated Papers

Focus on cardiac troponin complex: From gene expression to cardiomyopathy.

Ragusa R et al.

Genes & Diseases, 2024

Clinical Outcomes and Genetic Analyses of Restrictive Cardiomyopathy in Children.

Ishida H et al.

Circulation. Genomic and Precision Medicine, 2023

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S2

Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.

Marston NA et al.

European Heart Journal, 2021

33769460 (PubMed )
Supplement: ehab148_supplementary_appendix.pdf

Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.

Mazzarotto F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

29875424 (PubMed )
Supplement: 41436_2018_46_MOESM1_ESM.xlsx › Table_S3

Long-term Outcomes of Pediatric-Onset Hypertrophic Cardiomyopathy and Age-Specific Risk Factors for Lethal Arrhythmic Events.

Maurizi N et al.

Jama Cardiology, 2018

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S1B
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