Varaico: Literature-Extracted Genetic Variants

Gene:TNNT2
Variant:p.R215W
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TNNT2

NM_001276345.2:p.R215W

Associated Papers

Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy.

Kubanek M et al.

Esc Heart Failure, 2024

39129193 (PubMed )
Supplement: EHF2-11-4127-s002.xlsx › non-ttn_up

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

Human induced pluripotent stem cell line YCMi007-A generated from a dilated cardiomyopathy patient with a heterozygous dominant c.613C > T (p. Arg205Trp) variant of the TNNT2 gene.

Jeon SB et al.

Stem Cell Research, 2023

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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."