Varaico: Literature-Extracted Genetic Variants

Gene:TPM3
Variant:p.K49del1
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TPM3

NM_152263.4:p.K49del1

Associated Papers

Congenital myopathies: pathophysiological mechanisms and promising therapies.

Zhang H et al.

Journal of Translational Medicine, 2024

Functional outcomes of structural peculiarities of striated muscle tropomyosin.

Kopylova GV et al.

Journal of Muscle Research and Cell Motility, 2020

Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy.

Marttila M et al.

The Biochemical Journal, 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."