Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.R222H
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DES

NM_001927.4:p.R222H

Associated Papers

Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Dellefave-Castillo LM et al.

Jama Cardiology, 2022

35947370 (PubMed )
Supplement: jamacardiol-e222455-s002.xlsx › Supplemental_Table3_rollup

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

Brodehl A et al.

Biophysical Reviews, 2018

A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations.

Truszkowska GT et al.

Bmc Medical Genetics, 2015

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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."