Varaico: Literature-Extracted Genetic Variants

Gene:TPM2
Variant:p.E97K
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TPM2

NM_003289.4:p.E97K

Associated Papers

Mutations Q93H and E97K in TPM2 Disrupt Ca-Dependent Regulation of Actin Filaments.

Śliwinska M et al.

International Journal of Molecular Sciences, 2021

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."