Varaico: Literature-Extracted Genetic Variants

Gene:TNNC1
Variant:p.L121insFs
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TNNC1

NM_003280.3:p.L121insFs

Associated Papers

Calcium Handling in Inherited Cardiac Diseases: A Focus on Catecholaminergic Polymorphic Ventricular Tachycardia and Hypertrophic Cardiomyopathy.

Zaffran S et al.

International Journal of Molecular Sciences, 2023

A comprehensive guide to genetic variants and post-translational modifications of cardiac troponin C.

Reinoso TR et al.

Journal of Muscle Research and Cell Motility, 2021

A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation.

Parvatiyar MS et al.

The Journal of Biological Chemistry, 2012

Novel frameshift mutation in Troponin C ( TNNC1) associated with hypertrophic cardiomyopathy and sudden death.

Chung WK et al.

Cardiology in the Young, 2011

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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."