Varaico: Literature-Extracted Genetic Variants

Gene:TPM2
Variant:p.D20H
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TPM2

NM_003289.4:p.D20H

Associated Papers

Myopathy-linked mutations in TPM2 and their impact on troponin-mediated regulation of actomyosin contractility.

Küçükdogru R et al.

The Febs Journal, 2025

Mechanochemical consequences of myopathy-linked mutations in Tpm2.2 on striated muscle contractility.

Küçükdogru R et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024

A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders.

Vogt J et al.

Clinical Genetics, 2020

Spectrum of mutations that cause distal arthrogryposis types 1 and 2B.

Beck AE et al.

American Journal of Medical Genetics. Part A, 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."