Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.R355Q
Back to variants list

DES

NM_001927.4:p.R355Q

Associated Papers

Natural History, Phenotype Spectrum and Clinical Outcomes of Desmin (DES)-Associated Cardiomyopathy.

Asatryan B et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

A Comprehensive Analysis of Non-Desmosomal Rare Genetic Variants in Arrhythmogenic Cardiomyopathy: Integrating in Padua Cohort Literature-Derived Data.

Bueno Marinas M et al.

International Journal of Molecular Sciences, 2024

Phenotype and Clinical Outcomes in Desmin-Related Arrhythmogenic Cardiomyopathy.

Bermudez-Jimenez FJ et al.

Jacc. Clinical Electrophysiology, 2024

Whole-exome sequencing: Clinical characterization of pediatric and adult Italian patients affected by different forms of hereditary cardiovascular diseases.

Lenarduzzi S et al.

Molecular Genetics & Genomic Medicine, 2023

36788754 (PubMed )
Supplement: MGG3-11-e2143-s005.xlsx › Foglio1
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."