Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.E203K
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DES

NM_001927.4:p.E203K

Associated Papers

The Pathogenic Mechanisms of and Novel Therapies for Lamin A/C-Related Dilated Cardiomyopathy Based on Patient-Specific Pluripotent Stem Cell Platforms and Animal Models.

Wu XY et al.

Pharmaceuticals (basel, Switzerland), 2024

The structure and function of lamin A/C: Special focus on cardiomyopathy and therapeutic interventions.

Tiwari V et al.

Life Sciences, 2024

Cellular and Animal Models of Striated Muscle Laminopathies.

Nicolas HA et al.

Cells, 2019

Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling.

Zwerger M et al.

Human Molecular Genetics, 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."