Varaico: Literature-Extracted Genetic Variants

Gene:TPM3
Variant:p.E41K
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TPM3

NM_152263.4:p.E41K

Associated Papers

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.

Marttila M et al.

Human Mutation, 2014

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

Marttila M et al.

Skeletal Muscle, 2014

Myofilament lattice structure in presence of a skeletal myopathy-related tropomyosin mutation.

Ochala J et al.

Journal of Muscle Research and Cell Motility, 2013

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

Skeletal muscle disease due to mutations in tropomyosin, troponin and cofilin.

Clarke NF

Advances in Experimental Medicine and Biology, 2008

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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."