Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.Q130R
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TNNI3

NM_000363.5:p.Q130R

Associated Papers

AAV-TNNI3 rescues an experimental murine Tnni3 mutation resulting in thin filament mediated DCM.

Bushway PJ et al.

Journal of Molecular and Cellular Cardiology, 2026

Genetic architecture of hypertrophic cardiomyopathy in individuals of Chinese and United Kingdom ancestry.

Wang J et al.

Precision Clinical Medicine, 2025

40860236 (PubMed )
Supplement: pbaf019_supplemental_files.zip › Supplemental_Tables.pdf

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

Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology.

Shakur R et al.

Npj Genomic Medicine, 2021

34127679 (PubMed )
Supplement: 41525_2021_204_MOESM1_ESM.pdf

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

Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study.

Morita H et al.

Circulation, 2006

Inherited cardiomyopathies as a troponin disease.

Harada K et al.

The Japanese Journal of Physiology, 2004

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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."