Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.S361del1
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DES

NM_001927.4:p.S361del1

Associated Papers

Molecular insights into cardiomyopathies associated with desmin (DES) mutations.

Brodehl A et al.

Biophysical Reviews, 2018

The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death.

Brodehl A et al.

Circulation. Cardiovascular Genetics, 2013

Desminopathies: pathology and mechanisms.

Clemen CS et al.

Acta Neuropathologica, 2013

Intermediate filament diseases: desminopathy.

Goldfarb LG et al.

Advances in Experimental Medicine and Biology, 2008

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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."