Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.Y59C
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EMD

NM_000117.3:p.Y59C

Associated Papers

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

Gregory EF et al.

Plos Genetics, 2023

Loss of an H3K9me anchor rescues laminopathy-linked changes in nuclear organization and muscle function in an Emery-Dreifuss muscular dystrophy model.

Harr JC et al.

Genes & Development, 2020

An EDMD mutation in C. elegans lamin blocks muscle-specific gene relocation and compromises muscle integrity.

Mattout A et al.

Current Biology : Cb, 2011

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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."