Varaico: Literature-Extracted Genetic Variants

Gene:TNNC1
Variant:p.L48Q
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TNNC1

NM_003280.3:p.L48Q

Associated Papers

Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.

van den Dolder FW et al.

Jacc. Basic to Translational Science, 2025

40306862 (PubMed )
Supplement: mmc2.xlsx › Data_extraction

Mouse Models of Cardiomyopathies Caused by Mutations in Troponin C.

Tikunova SB et al.

International Journal of Molecular Sciences, 2023

The effect of Mg2+ on Ca2+ binding to cardiac troponin C in hypertrophic cardiomyopathy associated TNNC1 variants.

Rayani K et al.

The Febs Journal, 2022

Thin filament cardiomyopathies: A review of genetics, disease mechanisms, and emerging therapeutics.

Keyt LK et al.

Frontiers in Cardiovascular Medicine, 2022

Ion Channel Impairment and Myofilament Ca2+ Sensitization: Two Parallel Mechanisms Underlying Arrhythmogenesis in Hypertrophic Cardiomyopathy.

Santini L et al.

Cells, 2021

Changes in the dynamics of the cardiac troponin C molecule explain the effects of Ca2+-sensitizing mutations.

Stevens CM et al.

The Journal of Biological Chemistry, 2017

A Tension-Based Model Distinguishes Hypertrophic versus Dilated Cardiomyopathy.

Davis J et al.

Cell, 2016

Tension-Time Integrals and Genetic Cardiomyopathy: The Force Is with You.

Dorn GW

Cell, 2016

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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."