Varaico: Literature-Extracted Genetic Variants

Gene:TNNT2
Variant:p.R193W
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TNNT2

NM_001001431.3:p.R193W

Associated Papers

Unraveling the cellular characteristics of cardiomyopathy with rare variant-driven gene signatures using multi-omics analysis.

Jeong HE et al.

Scientific Reports, 2025

41469780 (PubMed )
Supplement: 41598_2025_33901_MOESM8_ESM.xlsx › TableS1

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

Ragusa R et al.

Genes & Diseases, 2024

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.

McGurk KA et al.

American Journal of Human Genetics, 2023

37652022 (PubMed )
Supplement: mmc3.xlsx › Table_S9

Genetic Screening Reveals Heterogeneous Clinical Phenotypes in Patients with Dilated Cardiomyopathy and Troponin T2 Variants.

Weis A et al.

Journal of Personalized Medicine, 2023

37108997 (PubMed )
Supplement: jpm-13-00611-s001.zip › jpm-2274209-supplementary.pdf

Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients.

Lippi M et al.

Biomolecules, 2022

36008935 (PubMed )
Supplement: biomolecules-12-01043-s001.zip › biomolecules-1806599-supplementary-proof_done-update.pdf

Genotype-specific pathogenic effects in human dilated cardiomyopathy.

Bollen IAE et al.

The Journal of Physiology, 2017

Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation.

Cuenca S et al.

The Journal of Heart and Lung Transplantation : the Official Publication of the International Society for Heart Transplantation, 2016

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