Varaico: Literature-Extracted Genetic Variants

Gene:TPM2
Variant:p.E139*
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TPM2

NM_003289.4:p.E139*

Associated Papers

Molecular Mechanisms of the Deregulation of Muscle Contraction Induced by the R90P Mutation in Tpm3.12 and the Weakening of This Effect by BDM and W7.

Borovikov YS et al.

International Journal of Molecular Sciences, 2021

Looking for Targets to Restore the Contractile Function in Congenital Myopathy Caused by Gln147Pro Tropomyosin.

Karpicheva OE et al.

International Journal of Molecular Sciences, 2020

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

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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."