Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.E161K
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DES

NM_001927.4:p.E161K

Associated Papers

Caenorhabditis elegans models for striated muscle disorders caused by missense variants of human LMNA.

Gregory EF et al.

Plos Genetics, 2023

Biomechanical defects and rescue of cardiomyocytes expressing pathologic nuclear lamins.

Laurini E et al.

Cardiovascular Research, 2018

Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.

Sébillon P et al.

Journal of Medical Genetics, 2003

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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."