Varaico: Literature-Extracted Genetic Variants

Gene:TPM2
Variant:p.R244G
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TPM2

NM_003289.4:p.R244G

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

Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients.

Marston S et al.

Human Molecular Genetics, 2013

Skeletal muscle myopathy mutations at the actin tropomyosin interface that cause gain- or loss-of-function.

Memo M et al.

Journal of Muscle Research and Cell Motility, 2013

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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."