Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.E244A
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DES

NM_001927.4:p.E244A

Associated Papers

Intermediate filament diseases: desminopathy.

Goldfarb LG et al.

Advances in Experimental Medicine and Biology, 2008

Desmin myopathy.

Goldfarb LG et al.

Brain : a Journal of Neurology, 2004

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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."