Varaico: Literature-Extracted Genetic Variants

Gene:ERVW-1
Variant:p.L530P
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ERVW-1

NM_001130925.2:p.L530P

Associated Papers

Genetic and Pathophysiological Basis of Cardiac and Skeletal Muscle Laminopathies.

Bhide S et al.

Genes, 2024

A comparative study of Drosophila and human A-type lamins.

Schulze SR et al.

Plos One, 2009

Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.

Ostlund C et al.

Journal of Cell Science, 2001

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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."