Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.E245_E246Splc
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DES

NM_001927.4:p.E245_E246Splc

Associated Papers

The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates.

Silva AMS et al.

Journal of Neuropathology and Experimental Neurology, 2022

Phenotypic variability within the desminopathies: A case series of three patients.

Yeow D et al.

Frontiers in Neurology, 2022

Expanding Spectrum of Desmin-Related Myopathy, Long-term Follow-up, and Cardiac Transplantation.

Shelly S et al.

Neurology, 2021

A different background of arrhythmia in siblings with a positive family history of sudden death at young age.

Stępień-Wojno M et al.

Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2020

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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."