Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.A107T
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TPM1

NM_001018005.2:p.A107T

Associated Papers

Identification of a novel likely pathogenic TPM1 variant linked to hypertrophic cardiomyopathy in a family with sudden cardiac death.

Azimi A et al.

Esc Heart Failure, 2024

Novel Mutation Glu98Lys in Cardiac Tropomyosin Alters Its Structure and Impairs Myocardial Relaxation.

Matyushenko AM et al.

International Journal of Molecular Sciences, 2023

Cardiomyocyte Dysfunction in Inherited Cardiomyopathies.

Hassoun R et al.

International Journal of Molecular Sciences, 2021

Thin filament dysfunctions caused by mutations in tropomyosin Tpm3.12 and Tpm1.1.

Moraczewska J

Journal of Muscle Research and Cell Motility, 2020

Molecular Mechanisms of Pathologies of Skeletal and Cardiac Muscles Caused by Point Mutations in the Tropomyosin Genes.

Matyushenko AM et al.

Biochemistry. Biokhimiia, 2020

Alpha-tropomyosin mutations in inherited cardiomyopathies.

Redwood C et al.

Journal of Muscle Research and Cell Motility, 2013

Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy.

Otsuka H et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2012

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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."