Varaico: Literature-Extracted Genetic Variants

Gene:TPM3
Variant:p.R245I
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TPM3

NM_152263.4:p.R245I

Associated Papers

A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report.

Chen Z et al.

Bmc Neurology, 2023

The R168G heterozygous mutation of tropomyosin 3 (TPM3) was identified in three family members and has manifestations ranging from asymptotic to serve scoliosis and respiratory complications.

Xu H et al.

Genes & Diseases, 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."