Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.E234K
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DES

NM_001927.4:p.E234K

Associated Papers

The Uncommon Phenomenon of Short QT Syndrome: A Scoping Review of the Literature.

Boulmpou A et al.

Journal of Personalized Medicine, 2025

40137421 (PubMed )
Supplement: jpm-15-00105-s001.zip › Supplementary_Table_S2_-_Case_reports_OK.pdf

Desmin variants: Trigger for cardiac arrhythmias?

Su W et al.

Frontiers in Cell and Developmental Biology, 2022

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

Brodehl A et al.

Biophysical Reviews, 2018

Emerging therapeutic targets in the short QT syndrome.

Hancox JC et al.

Expert Opinion on Therapeutic Targets, 2018

Novel trigenic CACNA1C/DES/MYPN mutations in a family of hypertrophic cardiomyopathy with early repolarization and short QT syndrome.

Chen Y et al.

Journal of Translational Medicine, 2017

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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."