Varaico: Literature-Extracted Genetic Variants

Gene:TNNT2
Variant:p.R215L
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TNNT2

NM_001276345.2:p.R215L

Associated Papers

Generation of an induced pluripotent stem cell line (HPCHi002-A) derived from a dilated cardiomyopathy patient harboring heterozygous mutations c.644G > T (p.Arg215Leu) in the TNNT2 gene.

Yuan Y et al.

Stem Cell Research, 2025

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

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

Ragusa R et al.

Genes & Diseases, 2024

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

Weis A et al.

Journal of Personalized Medicine, 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."