Varaico: Literature-Extracted Genetic Variants

Gene:TPM3
Variant:p.K52N
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TPM3

NM_152263.4:p.K52N

Associated Papers

Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy.

Lambert MR et al.

Skeletal Muscle, 2023

The Primary Causes of Muscle Dysfunction Associated with the Point Mutations in Tpm3.12; Conformational Analysis of Mutant Proteins as a Tool for Classification of Myopathies.

Borovikov YS et al.

International Journal of Molecular Sciences, 2018

Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.

Yuen M et al.

Human Molecular Genetics, 2015

Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene.

Robaszkiewicz K et al.

Biochimica Et Biophysica Acta, 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."