Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.D219V
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TPM1

NM_001018005.2:p.D219V

Associated Papers

Clinical impact of the TPM1 p.Tyr221Cys variant causing hypertrophic cardiomyopathy.

Marinelli A et al.

Genes & Diseases, 2025

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

Morphological and Genetic Aspects for Post-Mortem Diagnosis of Hypertrophic Cardiomyopathy: A Systematic Review.

Cianci V et al.

International Journal of Molecular Sciences, 2024

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

Matyushenko AM et al.

International Journal of Molecular Sciences, 2023

De Novo Asp219Val Mutation in Cardiac Tropomyosin Associated with Hypertrophic Cardiomyopathy.

Tsaturyan AK et al.

International Journal of Molecular Sciences, 2022

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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."