Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.R91P
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TPM1

NM_001018005.2:p.R91P

Associated Papers

Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy.

Lambert MR et al.

Skeletal Muscle, 2023

Structural Effects of Disease-Related Mutations in Actin-Binding Period 3 of Tropomyosin.

Kuruba B et al.

Molecules (basel, Switzerland), 2021

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

Matyushenko AM et al.

Biochemistry. Biokhimiia, 2020

Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.

Yuen M et al.

Human Molecular Genetics, 2015

Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.

Lawlor MW et al.

Human Mutation, 2010

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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."