Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.K183del1
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TNNI3

NM_000363.5:p.K183del1

Associated Papers

Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.

Josephs KS et al.

Genome Medicine, 2023

37872640 (PubMed )
Supplement: 13073_2023_1246_MOESM2_ESM.docx

Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.

Josephs KS et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37066275 (PubMed )
Supplement: media-4.docx

New insights provided by myofibril mechanics in inherited cardiomyopathies.

Lin YH et al.

Conditioning Medicine, 2019

[Genetic testing to prevent sudden cardiac death].

Stallmeyer B et al.

Der Internist, 2018

Late Gadolinium Enhancement for Prediction of Mutation-Positive Hypertrophic Cardiomyopathy on the Basis of Panel-Wide Sequencing.

Teramoto R et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2018

Cardiomyopathies with Mixed and Inapparent Morphological Features in Cardiac Troponin I3 Mutation.

Sohn DW et al.

Korean Circulation Journal, 2017

A Systematic Review of Phenotypic Features Associated With Cardiac Troponin I Mutations in Hereditary Cardiomyopathies.

Mogensen J et al.

The Canadian Journal of Cardiology, 2015

Fragmented QRS predicts heart failure progression in patients with hypertrophic cardiomyopathy.

Nomura A et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2015

Impact of systolic dysfunction in genotyped hypertrophic cardiomyopathy.

Fujino N et al.

Clinical Cardiology, 2013

VIP gene deletion in mice causes cardiomyopathy associated with upregulation of heart failure genes.

Szema AM et al.

Plos One, 2013

[Clinical and genetic aspects of hypertrophic and dilated cardiomyopathy].

Meder B et al.

Der Internist, 2012

Impact of renin-angiotensin system polymorphisms on development of systolic dysfunction in hypertrophic cardiomyopathy. Evidence from a study of genotyped patients.

Funada A et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2010

Heterogeneity of clinical manifestation of hypertrophic cardiomyopathy caused by deletion of lysine 183 in cardiac troponin I gene.

Funada A et al.

International Heart Journal, 2010

Impact of QT variables on clinical outcome of genotyped hypertrophic cardiomyopathy.

Uchiyama K et al.

Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2009

Exercise-induced systolic dysfunction in patients with non-obstructive hypertrophic cardiomyopathy and mutations in the cardiac troponin genes.

Sakata K et al.

Heart (british Cardiac Society), 2008

Gender-specific clinical characteristics of deep Q waves in hypertrophic cardiomyopathy.

Ohmoto-Sekine Y et al.

Gender Medicine, 2007

Differences in the diagnostic value of various criteria of negative T waves for hypertrophic cardiomyopathy based on a molecular genetic diagnosis.

Konno T et al.

Clinical Science (london, England : 1979), 2007

Hypertrophic cardiomyopathy: electrocardiographic manifestations and other important considerations for the emergency physician.

Kelly BS et al.

The American Journal of Emergency Medicine, 2007

Troponin mutations in cardiomyopathies.

Mogensen J

Advances in Experimental Medicine and Biology, 2007

Differences in diagnostic value of four electrocardiographic voltage criteria for hypertrophic cardiomyopathy in a genotyped population.

Konno T et al.

The American Journal of Cardiology, 2005

Phenotypic differences between electrocardiographic and echocardiographic determination of hypertrophic cardiomyopathy in genetically affected subjects.

Konno T et al.

Journal of Internal Medicine, 2005

Genetic causes of human heart failure.

Morita H et al.

The Journal of Clinical Investigation, 2005

Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.

Mogensen J et al.

Journal of the American College of Cardiology, 2004

What is the value of mutation identification in familial hypertrophic cardiomyopathy?

Yu B

Iubmb Life, 2004

Diagnostic value of abnormal Q waves for identification of preclinical carriers of hypertrophic cardiomyopathy based on a molecular genetic diagnosis.

Konno T et al.

European Heart Journal, 2004

T-peak to T-end interval may be a better predictor of high-risk patients with hypertrophic cardiomyopathy associated with a cardiac troponin I mutation than QT dispersion.

Shimizu M et al.

Clinical Cardiology, 2002

Septal wall thinning and systolic dysfunction in patients with hypertrophic cardiomyopathy caused by a cardiac troponin I gene mutation.

Shimizu M et al.

American Heart Journal, 2002

Chronologic electrocardiographic changes in patients with hypertrophic cardiomyopathy associated with cardiac troponin 1 mutation.

Shimizu M et al.

American Heart Journal, 2002

Transgenic modeling of a cardiac troponin I mutation linked to familial hypertrophic cardiomyopathy.

James J et al.

Circulation Research, 2000

Clinical features of hypertrophic cardiomyopathy caused by a Lys183 deletion mutation in the cardiac troponin I gene.

Kokado H et al.

Circulation, 2000

Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy.

Kimura A et al.

Nature Genetics, 1997

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