Varaico: Literature-Extracted Genetic Variants

Gene:TNNC1
Variant:p.G34S
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TNNC1

NM_003280.3:p.G34S

Associated Papers

Mouse Models of Cardiomyopathies Caused by Mutations in Troponin C.

Tikunova SB et al.

International Journal of Molecular Sciences, 2023

A novel variant of TNNC1 associated with severe dilated cardiomyopathy causing infant mortality and stillbirth: a case of germline mosaicism.

Udani R et al.

Journal of Genetics, 2023

Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies.

Reichart D et al.

Science (new York, N.y.), 2022

35926050 (PubMed )
Supplement: NIHMS1835045-supplement-Supp__table_1.xlsx › disease_samples

Pathogenic Variants in Cardiomyopathy Disorder Genes Underlie Pediatric Myocarditis-Further Impact of Heterozygous Immune Disorder Gene Variants?

Seidel F et al.

Journal of Cardiovascular Development and Disease, 2022

Cardiomyocyte Dysfunction in Inherited Cardiomyopathies.

Hassoun R et al.

International Journal of Molecular Sciences, 2021

De Novo Missense Mutations in TNNC1 and TNNI3 Causing Severe Infantile Cardiomyopathy Affect Myofilament Structure and Function and Are Modulated by Troponin Targeting Agents.

Hassoun R et al.

International Journal of Molecular Sciences, 2021

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

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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."