Varaico: Literature-Extracted Genetic Variants

Gene:TNNT2
Variant:p.R144W
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TNNT2

NM_001001430.3:p.R144W

Associated Papers

Mass Spectrometric ITEM-FOUR Analysis Reveals Coding Single-Nucleotide Polymorphisms in Human Cardiac Troponin T That Evade Detection by Sandwich ELISAs Which Use Monoclonal Antibodies M7 and M11.7 from the Elecsys Troponin T® Assay.

Kormann K et al.

International Journal of Molecular Sciences, 2025

Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.

Akawi N et al.

Frontiers in Molecular Biosciences, 2024

39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S12

Whole-exome sequencing revealed a novel Troponin T2 in a pediatric patient with severe isolated left ventricular noncompaction cardiomyopathy.

Wang L et al.

Qjm : Monthly Journal of the Association of Physicians, 2023

Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population.

Bourfiss M et al.

Circulation. Genomic and Precision Medicine, 2022

Harmonizing variant classification for return of results in the All of Us Research Program.

Harrison SM et al.

Human Mutation, 2022

34923710 (PubMed )
Supplement: HUMU-43-1114-s002.xlsx › Supplemental_Table_1

Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.

Cong PK et al.

Clinical and Translational Medicine, 2022

35538921 (PubMed )
Supplement: CTM2-12-e866-s001.docx

Pathogenic Variants Associated With Dilated Cardiomyopathy Predict Outcome in Pediatric Myocarditis.

Seidel F et al.

Circulation. Genomic and Precision Medicine, 2021

Reduced Systolic Function and Not Genetic Variants Determine Outcome in Pediatric and Adult Left Ventricular Noncompaction Cardiomyopathy.

Schultze-Berndt A et al.

Frontiers in Pediatrics, 2021

34540771 (PubMed )
Supplement: Data_Sheet_1.PDF

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Recent Advances in the Molecular Genetics of Familial Hypertrophic Cardiomyopathy in South Asian Descendants.

Kraker J et al.

Frontiers in Physiology, 2016

Results of comprehensive genetic testing in patients presenting to a multidisciplinary inherited heart disease clinic in India.

Chockalingam P et al.

Indian Heart Journal, 0

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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."