Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.K49del1
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TPM1

NM_001018005.2:p.K49del1

Associated Papers

Functional outcomes of structural peculiarities of striated muscle tropomyosin.

Kopylova GV et al.

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

Novel TPM3 mutation in a family with cap myopathy and review of the literature.

Schreckenbach T et al.

Neuromuscular Disorders : Nmd, 2014

Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations.

Marttila M et al.

Skeletal Muscle, 2014

Phenotypes of myopathy-related beta-tropomyosin mutants in human and mouse tissue cultures.

Abdul-Hussein S et al.

Plos One, 2013

Myopathies associated with β-tropomyosin mutations.

Tajsharghi H et al.

Neuromuscular Disorders : Nmd, 2012

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."