Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.G203R
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TNNI3

NM_000363.5:p.G203R

Associated Papers

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_S3

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_S1A

Inherited cardiomyopathies caused by troponin mutations.

Lu QW et al.

Journal of Geriatric Cardiology : Jgc, 2013

Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy.

van den Wijngaard A et al.

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2011

Troponin mutations in cardiomyopathies.

Mogensen J

Advances in Experimental Medicine and Biology, 2007

Molecular insights from a novel cardiac troponin I mouse model of familial hypertrophic cardiomyopathy.

Tsoutsman T et al.

Journal of Molecular and Cellular Cardiology, 2006

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

Inherited cardiomyopathies as a troponin disease.

Harada K et al.

The Japanese Journal of Physiology, 2004

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