Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.E203G
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DES

NM_001927.4:p.E203G

Associated Papers

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

Zwerger M et al.

Human Molecular Genetics, 2013

Mutations in the LMNA gene encoding lamin A/C.

Genschel J et al.

Human Mutation, 2000

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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."