Varaico: Literature-Extracted Genetic Variants

Gene:TNNT2
Variant:p.R139H
Back to variants list

TNNT2

NM_001001430.3:p.R139H

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

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

Evaluation of a new NGS method based on a custom AmpliSeq library and Ion Torrent PGM sequencing for the fast detection of genetic variations in cardiomyopathies.

Millat G et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."