Varaico: Literature-Extracted Genetic Variants

Gene:TPM2
Variant:p.D14V
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TPM2

NM_003289.4:p.D14V

Associated Papers

Molecular Mechanisms of Pathologies of Skeletal and Cardiac Muscles Caused by Point Mutations in the Tropomyosin Genes.

Matyushenko AM et al.

Biochemistry. Biokhimiia, 2020

Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families.

Li S et al.

Bmc Medical Genetics, 2018

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

Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations.

Jarraya M et al.

Neuromuscular Disorders : Nmd, 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."