Varaico: Literature-Extracted Genetic Variants

Gene:TPM2
Variant:p.R91C
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TPM2

NM_003289.4:p.R91C

Associated Papers

Mutations Q93H and E97K in TPM2 Disrupt Ca-Dependent Regulation of Actin Filaments.

Śliwinska M et al.

International Journal of Molecular Sciences, 2021

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

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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."