Varaico: Literature-Extracted Genetic Variants

Gene:WDTC1
Variant:p.E40K
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WDTC1

NM_001276252.2:p.E40K

Associated Papers

Genetics of Darier's Disease: New Insights into Pathogenic Mechanisms.

Moschella B et al.

Genes, 2025

Pathogenic single nucleotide polymorphisms in RhoA gene: Insights into structural and functional impacts on RhoA-PLD1 interaction through molecular dynamics simulation.

Hasan M et al.

Current Research in Structural Biology, 2024

The Effect of Tropomyosin Mutations on Actin-Tropomyosin Binding: In Search of Lost Time.

Lehman W et al.

Biophysical Journal, 2019

Nuclear tropomyosin and troponin in striated muscle: new roles in a new locale?

Chase PB et al.

Journal of Muscle Research and Cell Motility, 2013

The effect of mutations in alpha-tropomyosin (E40K and E54K) that cause familial dilated cardiomyopathy on the regulatory mechanism of cardiac muscle thin filaments.

Mirza M et al.

The Journal of Biological Chemistry, 2007

The role of phosphoinositide-3 kinase and PTEN in cardiovascular physiology and disease.

Oudit GY et al.

Journal of Molecular and Cellular Cardiology, 2004

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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."